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Article

Does p.Q247X in <i>TRIM63</i> Cause Human Hypertrophic Cardiomyopathy?

16 Jan 2014

Abstract excerpt

RATIONALE: Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. OBJECTIVE: To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up. METHODS AND RESULTS: Clinical studies were performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24436435
DOI: 10.1161/circresaha.114.302662

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Does p.Q247X in <i>TRIM63</i> Cause Human Hypertrophic Cardiomyopathy?PMID 24436435Read ↗

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