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: Jeroen van Rooij Pascal Arp Linda Broer Joost Verlouw Frank van Rooij Robert Kraaij Andr é Uitterlinden Annemieke J. M. H. Verkerk Source Type: research