Article
Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.
JCI insight - 8 Dec 2021
Mason Allison B, Lynn Melissa L, Baldo Anthony P, Deranek Andrea E, Tardiff Jil C, Schwartz Steven D
Abstract excerpt
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 address this challenge, we utilized our all-atom computational model of the human full cardiac thin filament (CTF) to...
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