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Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing

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The aim of this study was to identify the genetic causes of patients with hypertrophic cardiomyopathy (HCM) within a family. Most of the previous studies found point mutations as the… Click to show full abstract

The aim of this study was to identify the genetic causes of patients with hypertrophic cardiomyopathy (HCM) within a family. Most of the previous studies found point mutations as the genetic causes for HCM, whole‐gene deletion was rarely reported.

Keywords: potential digenic; inheritance familial; digenic inheritance; hypertrophic cardiomyopathy; cardiomyopathy identified; familial hypertrophic

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020

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