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Article

Phenotypic Heterogeneity within Members of a Family Carrying the Same RBM20 Mutation R634W

1 Jan 2018

Abstract excerpt

OBJECTIVE: We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM). METHODS: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-generation sequencing technology. RESULTS: In this study, we present 6 members of a family carrying the RBM20 mutation NM_001134363.2:c.1900C>T. The...

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PMID: 30557877
DOI: 10.1159/000494453

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