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

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...

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Detalles Bibliográficos
Autores principales: Halder, Saiti S, Rynkiewicz, Michael J, Creso, Jenette G, Sewanan, Lorenzo R, Howland, Lindsey, Moore, Jeffrey R, Lehman, William, Campbell, Stuart G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Biological, Health, and Medical Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991458/
https://www.ncbi.nlm.nih.gov/pubmed/36896133
http://dx.doi.org/10.1093/pnasnexus/pgad011

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