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Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy

5 Sept 2024

Abstract excerpt

BACKGROUND: Pathogenic variants of MYH7, which encodes the beta-myosin heavy chain protein, are major causes of dilated and hypertrophic cardiomyopathy. METHODS: In this study, we used whole-genome sequencing data to identify MYH7 variants in 397 patients with various cardiomyopathy subtypes who were participating in the National Project of Bio Big Data pilot study in Korea. We also performed in silico analyses...

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PMID: 39237976
DOI: 10.1186/s12920-024-02000-8

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