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Article

Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.

Journal of cardiovascular translational research - 1 Oct 2020

Pricolo Maria Rosaria, Herrero-Galán Elías, Mazzaccara Cristina, Losi Maria Angela, Alegre-Cebollada Jorge, Frisso Giulia

Abstract excerpt

In the era of next generation sequencing (NGS), genetic testing for inherited disorders identifies an ever-increasing number of variants whose pathogenicity remains unclear. These variants of uncertain significance (VUS) limit the reach of genetic testing in clinical practice. The VUS for hypertrophic cardiomyopathy (HCM), the most common familial heart disease, constitute over 60% of entries for missense...

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Share to Calorimetry, Differential Scanning
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Databases, Genetic

Share to Mutation, Missense

Share to Protein Stability

Share to Structure-Activity Relationship

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Identifiers

PMID: 32034629
DOI: 10.1007/s12265-020-09959-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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