Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Genetics in Medicine, Published online: 15 July 2020; doi:10.1038/s41436-020-0900-8Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
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