Article

Comprehensive Genetic Study of Russian Hypertrophic Cardiomyopathy Identifies <i>MYBPC3 c.3697C>T</i> as the Predominant Variant in Pediatric and Adult Cohorts

2025-11-06

Abstract excerpt

<h4>Background: </h4> The genetic etiology of hypertrophic cardiomyopathy (HCM) is complex and population-specific, yet Russian HCM patients remain understudied. <h4>Methods: </h4>. Between 2015-2025, unrelated pediatric and adult HCM patients were genotyped in a single laboratory. Children were sequenced with a 404-gene panel and adults with a 17-gene panel. Genotype-phenotype correlations were assessed for carr...

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Literature Corpus work: 8c2ad906-32c6-5c00-a542-9e41eaa8bae9
DOI: 10.1101/2025.11.05.25339569

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