Cargando…

Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament

Point mutations within sarcomeric proteins have been associated with altered function and cardiomyopathy development. Difficulties remain, however, in establishing the pathogenic potential of individual mutations, often limiting the use of genotype in management of affected families. To directly add...

Descripción completa

Detalles Bibliográficos
Autores principales: Mason, Allison B., Lynn, Melissa L., Baldo, Anthony P., Deranek, Andrea E., Tardiff, Jil C., Schwartz, Steven D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675185/
https://www.ncbi.nlm.nih.gov/pubmed/34699384
http://dx.doi.org/10.1172/jci.insight.154350