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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2021
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| 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 |