Article
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Stroeks Sophie L V M, Hellebrekers Debby M E I, Claes Godelieve R F, Tayal Upasana, Krapels Ingrid P C, Vanhoutte Els K, van den Wijngaard Arthur, Henkens Michiel T H M, Ware James S, Heymans Stephane R B, Brunner Han G, Verdonschot Job A J
Abstract excerpt
PURPOSE: Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria for DCM, reclassified all detected variants in robust genes, and associated these results to patients' phenotype. METHODS: The...
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