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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...
Autores principales: | Barbosa, Pedro, Ribeiro, Marta, Carmo-Fonseca, Maria, Fonseca, Alcides |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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