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Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L

21 Jan 2023

Abstract excerpt

Abstract Hypertrophic cardiomyopathy (HCM) is an inherited disorder often caused by mutations to sarcomeric genes. Many different HCM-associated TPM1 mutations have been identified but they vary in their degrees of severity, prevalence, and rate of disease progression. The pathogenicity of many TPM1 variants detected in the clinical population remains unknown. Our objective was to employ a computational modeling...

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PMID: 36896133
DOI: 10.1093/pnasnexus/pgad011

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