The progression of the ClinGen gene clinical validity classification over time.

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第一作者： Jennifer L,McGlaughon

第一单位： Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

作者： Jennifer L,McGlaughon ^[1] ; Jennifer L,Goldstein ^[1] ; Courtney,Thaxton ^[1] ; Sarah E,Hemphill ^[2] ; Jonathan S,Berg ^[1]

作者单位： Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina. ^[1] Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts. ^[2]

关键词 ClinGen Clinical Genome Resource clinical validity curation gene-disease association reevaluation

主题词疾病恶化(Disease Progression);基因组, 人(Genome, Human);基因组学(Genomics);人类(Humans);回顾性研究(Retrospective Studies)

DOI 10.1002/humu.23604

PMID 30311372

发布时间 2023-04-26

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Human mutation

2018年39卷11期

1494-1504页

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The progression of the ClinGen gene clinical validity classification over time.

Human mutation

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The progression of the ClinGen gene clinical validity classification over time.

Human mutation

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Human mutation

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