Article

A genotype-phenotype taxonomy of hypertrophic cardiomyopathy

2023-03-14

Abstract excerpt

<h4>Background</h4> Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes but there is no systematic framework for classifying morphology or assessing associated risks. Here we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression. <h4>Methods</h4> We enrolled 436 HCM patients (median ag...

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Literature Corpus work: 540c9f19-f161-5440-967b-5812b83eda4c
DOI: 10.1101/2023.03.11.23285908

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