Article

Thermodynamic destabilization informs pathogenicity assessment of a variant of uncertain significance in cardiac myosin binding protein C

2019-10-01

Abstract excerpt

<h4>ABSTRACT</h4> 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 fo...

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Literature Corpus work: d6fe6d47-4e98-53f4-ac7a-e9ab7f7c4e61
DOI: 10.1101/789081

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