Article

Multiplexed functional assessments of <i>MYH7</i> variants in human cardiomyocytes at scale

2023-07-30

Abstract excerpt

<h4>Background</h4> Single, autosomal-dominant missense mutations in MYH7 , which encodes a sarcomeric protein (MHC-β) in cardiac and skeletal myocytes, are a leading cause of hypertrophic cardiomyopathy and are clinically-actionable. However, ∼75% of MYH7 variants are of unknown significance (VUS), causing diagnostic challenges for clinicians and emotional distress for patients. Deep mutational scans (DMS) can...

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Literature Corpus work: b94d5e6e-4a71-5301-82cc-7687ed08a37a
DOI: 10.1101/2023.07.28.551073

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