Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants

Hypertrophic cardiomyopathy (HCM) is a common heart disease associated with sudden cardiac death. Early diagnosis is critical to identify patients who may benefit from implantable cardioverter defibrillator therapy. Although genetic testing is an integral part of the clinical evaluation and manageme...

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Detalles Bibliográficos
Autores principales: Barbosa, Pedro, Ribeiro, Marta, Carmo-Fonseca, Maria, Fonseca, Alcides
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433717/
https://www.ncbi.nlm.nih.gov/pubmed/36061567
http://dx.doi.org/10.3389/fcvm.2022.975478

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433717/
https://www.ncbi.nlm.nih.gov/pubmed/36061567
http://dx.doi.org/10.3389/fcvm.2022.975478

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