The ACMG/AMP reputable source criteria for the interpretation of sequence variants.
作者信息
Biesecker Leslie G, Harrison Steven M
机构信息
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA.
出版信息
Genet Med. 2018 Dec;20(12):1687-1688. doi: 10.1038/gim.2018.42.
Abstract
摘要
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