Article

Computational prediction of protein subdomain stability in <i>MYBPC3</i> enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

2020-11-30

Abstract excerpt

<h4>Purpose</h4> Variants in MYBPC3 causing loss-of-function are the most common cause of HCM. However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates the effect of missense variants on protein folding, will improve clinical risk stratification of patients with HCM and a MYBPC3 VUS. <h...

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Literature Corpus work: f46e5e11-d47c-59a0-bd7e-3d0c92ca4d88
DOI: 10.1101/2020.11.29.402974

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