<![CDATA[
<ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #666666;" href="https://www.clinicalgenome.org/start/" target="_top" class="ke-link">시작</a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/about/" target="_top" class="ke-link">우리에 관해서</a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/curation-activities/" target="_top" class="ke-link">큐레이션 활동</a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/working-groups/" target="_top" class="ke-link">실무 그룹</a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/affiliation/" target="_top" class="ke-link">전문가 패널</a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/docs/" target="_top" class="ke-link">문서 <span>& 발표</span></a></li><li><a style="color: #666666;" href="https://www.clinicalgenome.org/tools/" target="_top" class="ke-link">도구</a></li><li> </li></ul><hr data-ke-style="style1"><p><span>유전자 기호 </span></p><p><span data-ke-size="size14">검색</span></p><p> </p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/genes/curations" target="_top" class="ke-link">큐레이티드 유전자 </a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/gene-validity" target="_top" class="ke-link">유전자-질병 타당성 </a></li><li><a style="color: #23527c; background-color: #ffffff;" href="https://search.clinicalgenome.org/kb/gene-dosage" target="_top" class="ke-link">투여 민감도 </a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/actionability" target="_top" class="ke-link">임상적 실행 가능성 </a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/variant-pathogenicity/all" target="_top" class="ke-link">큐레이팅된 변형 </a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/reports/stats" target="_top" class="ke-link">통계</a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/downloads" target="_top" class="ke-link">다운로드</a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#" target="_top" class="ke-link">더 </a></li><li><a style="color: #ffffff; background-color: #000000;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#" target="_top" class="ke-link"> </a></li></ul><div class="table-wrap"><table data-ke-type="table" data-ke-align="alignLeft" style="width: 100%;" border="1"><tbody><tr><td><div class="figure-img" data-ke-type="image" data-ke-style="alignCenter" data-ke-mobilestyle="widthOrigin"><img src="https://t1.daumcdn.net/cafeattach/19f8U/6283b28f3954874595ba4b12e3c32e9e6592f486" class="txc-image" width="40" height="40" data-img-src="https://t1.daumcdn.net/cafeattach/19f8U/6283b28f3954874595ba4b12e3c32e9e6592f486" data-origin-width="200" data-origin-height="200"></div></td><td>16p13.12 인구 영역(gnomAD-SV_v2.1_DEL_16_152599)<a style="color: #166894;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#collapseExample" target="_top" class="ke-link"><i></i> 지역 정보</a></td></tr></tbody></table></div><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><span data-ke-size="size20">40</span><br>하플로<br>스코어</li><li><br>0 트리플로<br>점수</li></ul><p>투여 민감도 요약 (지역)</p><p>복용량 ID:</p><p>ISCA-46484 (영문)</p><p> </p><p>큐레이션 상태:</p><p><span style="color: #28a745;">완성하다</span></p><p>문제 유형:</p><p>복용량 큐레이션 - 부위</p><p>묘사:</p><p>SVTYPE=델 유전자=PLA2G10 COPY_GAIN=해당 없음 그노마드 AF=0.109661996 ORIGIN=gnomad_v2.1_sv.sites(2021년 5월 1일) 그노마드 URL=<a href="https://gnomad.broadinstitute.org/variant/DEL_16_152599?dataset=gnomad_sv_r2_1" target="_top" class="ke-link">https://gnomad.broadinstitute.org/variant/DEL_16_152599?dataset=gnomad_sv_r2_1</a></p><p> 중단점 유형:</p><p>변수</p><p>하플로불충분:</p><p>투여 민감도 가능성 낮음 (40)</p><p><a style="color: #337ab7;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#report_details_haploinsufficiency" target="_top" class="ke-link">전체 보고서 읽기...</a></p><p>삼중민감성:</p><p>삼중민감성에 대한 근거 없음 (0)</p><p><a style="color: #337ab7;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#report_details_triplosensitivity" target="_top" class="ke-link">전체 보고서 읽기...</a></p><p>gnomAD 대립 유전자 빈도 :</p><p>0.109661996</p><p>마지막 평가:</p><p>08/09/2021</p><p>Haploinsufficiency (HI) 점수 세부 정보</p><p>HI 점수:</p><p>40</p><p>안녕 증거 힘:</p><p><span>투여 민감도 가능성 낮</span> <span style="color: #337ab7;">음(면책 조항)</span></p><p>HI 증거 코멘트:</p><p><span>투여량에 민감하지 않을 것 같은 게놈 영역을 식별하기 위한 노력의 일환으로, ClinGen은 gnomAD structural variant (SV) v2.1 데이터 세트(PMID: 32461652)에서 다음 기준을 충족하는 변이체를 쿼리했습니다: 결실 또는 복제로 특징지어지는 통과된 gnomAD 품질 필터, 크기 >1kb, 하나 이상의 유전자를 포함, >5%의 대립유전자 빈도로 존재(최소 2000개의 대립유전자 테스트 포함). 이 영역은 gnomAD-SV v2.1에서 이러한 기준을 충족하는 것으로 식별된 변형에 해당합니다. 이 변형의 gnomAD 식별자는 참조를 위해 제목에 반영됩니다. 2021년 5월 1일 현재, 이 부위에 포함된 유전자와 인간 질병 사이의 관계는 보고되지 않았습니다. 높은 인구 빈도를 감안할 때 이 지역은 "투여 민감도 가능성이 낮음"으로 분류되었습니다.</span></p><p>삼중 민감도(TS) 점수 세부 정보</p><p>TS 점수:</p><p>0</p><p>TS 증거 강도:</p><p><span>삼중민감성에 대한 근거 없음</span> <span style="color: #337ab7;">(면책 조항)</span></p><p>게놈 보기</p><p><span>어셈블리 선택: </span>       GRCh37/hg19 chr16:14782199-14805000       GRCh38/hg38 chr16:14688342-14711143      <span>(<a style="color: #337ab7;" href="https://www.ncbi.nlm.nih.gov/nuccore/NC_000016.9" target="_blank" class="ke-link">NC_000016.9</a>)</span></p><p><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14"><b>NC_000016.9</b></span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14">찾아내다:</span></span></span></p><p> </p><p> </p><p><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14">도구</span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14">트랙</span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14">다운로드</span></span></span><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span></span></span></p><p> </p><p> </p><p> </p><p> </p><p> </p><p>NCBI 유전자</p><p>ISCA 큐레이션 지역</p><p>경고: 이 범위에서 트랙 데이터를 찾을 수 없습니다.</p><p>NC_000016.9: 15분.. 15M(27,363nt)</p><p><span style="color: #337ab7;"></span><span><span></span></span><span style="color: #337ab7;"></span><span><span><span style="color: #333333;" data-ke-size="size14">표시된 트랙: 3/239</span></span></span></p><p>Back To Top</p><p>사용자 의견 보내기</p><hr data-ke-style="style1"><p> <a style="color: #337ab7;" href="https://clinicalgenome.org/tools/clingen-website-faq/how-to-cite/" target="_blank" class="ke-link">여기를 클릭하여 ClinGen을 인용하는 방법에 대해 자세히 알아</a>보고 <a style="color: #337ab7;" href="https://clinicalgenome.org/tools/clingen-website-faq/attribution/" target="_blank" class="ke-link">활용된 외부 리소스</a> 목록을 확인하십시오.</p><hr data-ke-style="style1"><p>이 웹사이트의 정보는 유전학 전문가의 검토 없이 직접적인 진단 용도 또는 의학적 의사 결정을 위한 것이 아닙니다. 개인은 이 웹사이트에 포함된 정보만을 근거로 자신의 건강 행동을 변경해서는 안 됩니다. 이 웹사이트에 포함된 정보에 대해 질문이 있는 경우 의료 전문가와 상담하십시오.</p><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://twitter.com/ClinGenResource" target="_blank" class="ke-link">@ClinGenResource</a></p><p><a style="color: #dc3545;" href="https://www.youtube.com/channel/UCsn4nEVUTpVQz70rClgMMsQ" target="_blank" class="ke-link">youtube.com</a></p><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/start/" target="_top" class="ke-link">시작</a></p><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/curation-activities/" target="_top" class="ke-link">큐레이션 활동</a></p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/curation-activities/gene-disease-validity/" target="_top" class="ke-link"><span>유전자-질병 타당성</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/curation-activities/variant-pathogenicity/" target="_top" class="ke-link"><span>변이체 병원성</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/curation-activities/clinical-actionability/" target="_top" class="ke-link"><span>임상적 실행 가능성</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/curation-activities/dosage-sensitivity/" target="_top" class="ke-link"><span>투여 민감도</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/curation-activities/results/" target="_top" class="ke-link"><span>모든 ClinGen의 선별된 유전자 찾아보기</span></a></li></ul><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/tools/" target="_top" class="ke-link">도구</a></p><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/about/" target="_top" class="ke-link">우리에 관해서</a></p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/clingen-clinvar-collaboration/" target="_top" class="ke-link"><span>ClinGen & ClinVar 협업</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/terms-of-use/" target="_top" class="ke-link"><span>ClinGen 이용 약관</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/clingen-collaborations/" target="_top" class="ke-link"><span>협력</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/contact-clingen/" target="_top" class="ke-link"><span>ClinGen에 문의</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/events/" target="_top" class="ke-link"><span>행사 & 컨퍼런스</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/clingen-leadership/" target="_top" class="ke-link"><span>지도력</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/people/" target="_top" class="ke-link"><span>회원 명부</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/clingen-policies/" target="_top" class="ke-link"><span>선언</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/about/sitemap/" target="_top" class="ke-link"><span>웹사이트 사이트맵</span></a></li></ul><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/working-groups/" target="_top" class="ke-link">실무 그룹</a></p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/actionability/" target="_top" class="ke-link"><span>실행 가능성</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/ancestry/" target="_top" class="ke-link"><span>혈통과 다양성</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/biocurators/" target="_top" class="ke-link"><span>바이오큐레이터</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/elsi/" target="_top" class="ke-link"><span>CADRe (동의 및 공개 권장 사항)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/clinical-domain/" target="_top" class="ke-link"><span>임상 영역 실무 그룹</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/c3/" target="_top" class="ke-link"><span>커뮤니티 큐레이션</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/complex-disease/" target="_top" class="ke-link"><span>복합 질환</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/copy-number-variant-interpretation-guidelines/" target="_top" class="ke-link"><span>사본 번호 변형 해석 지침</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/data-platform/" target="_top" class="ke-link"><span>데이터 플랫폼</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/" target="_top" class="ke-link"><span>질병 명명 자문 위원회</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/dosage-sensitivity-curation/" target="_top" class="ke-link"><span>투여량 민감도 큐레이션</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/education-engagement-and-counseling/" target="_top" class="ke-link"><span>교육, 조정 및 훈련</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/ehr/" target="_top" class="ke-link"><span>EHR (EHR)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/external-scientific-panel/" target="_top" class="ke-link"><span>외부 과학 패널</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/gene-curation/" target="_top" class="ke-link"><span>유전자 큐레이션</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/genomic-variant-workgroup/" target="_top" class="ke-link"><span>게놈 변이체</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/low-penetrance-risk-allele-working-group/" target="_top" class="ke-link"><span>낮은 침투율/위험 대립유전자 워킹 그룹</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/lumping-and-splitting/" target="_top" class="ke-link"><span>뭉치기 및 쪼개기</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/pharmacogenomics/" target="_top" class="ke-link"><span>약물유전체학(Pharmacogenomics)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/sequence-variant-inter-laboratory-discrepancy-resolution/" target="_top" class="ke-link"><span>Sequence Variant Inter-Laboratory Discrepancy Resolution(염기서열 변이체 실험실 간 불일치 분해능)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/sequence-variant-interpretation/" target="_top" class="ke-link"><span>염기서열 변형 해석</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/somatic/" target="_top" class="ke-link"><span>체세포암(Somatic Cancer)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/stakeholder-partnership/" target="_top" class="ke-link"><span>이해관계자 파트너십</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/working-groups/steering-committee/" target="_top" class="ke-link"><span>운영위원회</span></a></li></ul><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://clinicalgenome.org/affiliation/" target="_top" class="ke-link">전문가 패널</a></p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50048/" target="_top" class="ke-link"><span>ACADVL 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40011/" target="_top" class="ke-link"><span>아미노산병증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40003/" target="_top" class="ke-link"><span>부정맥성 우심실 심근병증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40020/" target="_top" class="ke-link"><span>뇌 기형 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50020/" target="_top" class="ke-link"><span>뇌 기형 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40042/" target="_top" class="ke-link"><span>유방암/난소암 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40045/" target="_top" class="ke-link"><span>브루가다 증후군 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50002/" target="_top" class="ke-link"><span>심근병증 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50014/" target="_top" class="ke-link"><span>CDH1 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50047/" target="_top" class="ke-link"><span>대뇌 크레아틴 결핍 증후군 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40063/" target="_top" class="ke-link"><span>Charcot-Marie-Tooth 질병 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50041/" target="_top" class="ke-link"><span>응고 인자 결핍 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40043/" target="_top" class="ke-link"><span>대장암 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40031/" target="_top" class="ke-link"><span>선천성 근병증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50031/" target="_top" class="ke-link"><span>선천성 근병증 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40059/" target="_top" class="ke-link"><span>두개안면 기형 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50050/" target="_top" class="ke-link"><span>DICER1 및 miRNA 처리 유전자 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40035/" target="_top" class="ke-link"><span>확장성 심근병증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40005/" target="_top" class="ke-link"><span>뇌전증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50004/" target="_top" class="ke-link"><span>가족성 고콜레스테롤혈증 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40044/" target="_top" class="ke-link"><span>가족성 흉부 대동맥류 및 해부 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40010/" target="_top" class="ke-link"><span>지방산 산화 장애 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50046/" target="_top" class="ke-link"><span>FBN1 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40026/" target="_top" class="ke-link"><span>일반 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50053/" target="_top" class="ke-link"><span>녹내장 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50078/" target="_top" class="ke-link"><span>GRIN Disorders Variant 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40007/" target="_top" class="ke-link"><span>청력 손실 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50007/" target="_top" class="ke-link"><span>청력 손실 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50052/" target="_top" class="ke-link"><span>혈색소병증 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40028/" target="_top" class="ke-link"><span>지혈/혈전증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50039/" target="_top" class="ke-link"><span>유전성 유방암, 난소암 및 췌장암 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40023/" target="_top" class="ke-link"><span>유전성 암 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50037/" target="_top" class="ke-link"><span>유전성 출혈성 모세혈관 확장증 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40080/" target="_top" class="ke-link"><span>체액성 결함 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40008/" target="_top" class="ke-link"><span>비후성 심근병증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40006/" target="_top" class="ke-link"><span>지적 장애 및 자폐증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50001/" target="_top" class="ke-link"><span>KCNQ1 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40066/" target="_top" class="ke-link"><span>신장 낭성 및 섬모병증 장애 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50066/" target="_top" class="ke-link"><span>신장 낭성 및 섬모병증 질환 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50082/" target="_top" class="ke-link"><span>Leber 선천성 무뇨증/조기 발병 망막 이영양증 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40061/" target="_top" class="ke-link"><span>사지 거들 근이영양증 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50061/" target="_top" class="ke-link"><span>사지 거들 근이영양증 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40025/" target="_top" class="ke-link"><span>긴 QT 증후군 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50009/" target="_top" class="ke-link"><span>리소좀 저장 장애 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50038/" target="_top" class="ke-link"><span>악성 온열요법 감수성 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50027/" target="_top" class="ke-link"><span>미토콘드리아 질환 핵 및 미토콘드리아 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40027/" target="_top" class="ke-link"><span>미토콘드리아 질환 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40016/" target="_top" class="ke-link"><span>단일 유전자 당뇨병 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50016/" target="_top" class="ke-link"><span>단일 유전자 당뇨병 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50034/" target="_top" class="ke-link"><span>골수성 악성 종양 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50089/" target="_top" class="ke-link"><span>NTRK Fusions Somatic Cancer Variant 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40079/" target="_top" class="ke-link"><span>파킨슨병 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40049/" target="_top" class="ke-link"><span>Peroxisomal Disorders Gene Curation 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50049/" target="_top" class="ke-link"><span>Peroxisomal Disorders Variant Curation 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50015/" target="_top" class="ke-link"><span>페닐케톤뇨증 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50040/" target="_top" class="ke-link"><span>혈소판 장애 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50012/" target="_top" class="ke-link"><span>PTEN 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40071/" target="_top" class="ke-link"><span>폐고혈압 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40021/" target="_top" class="ke-link"><span>RASopathy 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50021/" target="_top" class="ke-link"><span>RASopathy Variant 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40072/" target="_top" class="ke-link"><span>망막 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50022/" target="_top" class="ke-link"><span>Rett 및 Angelman 유사 장애 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40081/" target="_top" class="ke-link"><span>SCID-CID 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40065/" target="_top" class="ke-link"><span>골격 질환 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/40060/" target="_top" class="ke-link"><span>증후군 질환 유전자 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50064/" target="_top" class="ke-link"><span>혈전증 변이체 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50013/" target="_top" class="ke-link"><span>TP53 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50036/" target="_top" class="ke-link"><span>VHL 변형 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50051/" target="_top" class="ke-link"><span>von Willebrand 질병 변이 큐레이션 전문가 패널</span></a></li><li><a style="color: #343a40;" href="https://clinicalgenome.org/affiliation/50086/" target="_top" class="ke-link"><span>X-연관 유전 망막 질환 변이체 큐레이션 전문가 패널</span></a></li></ul><hr data-ke-style="style1"><p><a style="color: #337ab7;" href="https://www.clinicalgenome.org/docs/" target="_top" class="ke-link">문서 및 공지 사항</a></p><ul style="list-style-type: disc;" data-ke-list-type="disc"><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=announcement#list_documentation_table" target="_top" class="ke-link"><span>공지 사항</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=clingen-exhibit-booth-materials#list_documentation_table" target="_top" class="ke-link"><span>ClinGen 전시 부스 자료</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures#list_documentation_table" target="_top" class="ke-link"><span>큐레이션 활동 절차</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=conflict-of-interest-coi#list_documentation_table" target="_top" class="ke-link"><span>이해상충(COI)</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=data-sharing-resources#list_documentation_table" target="_top" class="ke-link"><span>데이터 공유 리소스</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=expert-panel-status-steps#list_documentation_table" target="_top" class="ke-link"><span>전문가 패널 응용 프로그램</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=in-the-news#list_documentation_table" target="_top" class="ke-link"><span>소식</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=moc-cme-forms#list_documentation_table" target="_top" class="ke-link"><span>MOC/CME 양식</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=patient-data-sharing#list_documentation_table" target="_top" class="ke-link"><span>환자 데이터 공유</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=policies-position-statements#list_documentation_table" target="_top" class="ke-link"><span>정책/입장 성명서</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=presentations#list_documentation_table" target="_top" class="ke-link"><span>프리젠테이션</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=publications#list_documentation_table" target="_top" class="ke-link"><span>출판</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=supporting-documents#list_documentation_table" target="_top" class="ke-link"><span>증빙 서류</span></a></li><li><a style="color: #343a40;" href="https://www.clinicalgenome.org/docs/?doc-type=training-materials#list_documentation_table" target="_top" class="ke-link"><span>교육 자료</span></a></li></ul><p><a style="color: #337ab7;" href="https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46484#" target="_top" class="ke-link">맨 위로 이동</a></p><p>© 클린젠</p>
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