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Article

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

1 Feb 2019

Abstract excerpt

BACKGROUND: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. Recent trends to increase gene panel sizes often mean variants in genes with questionable association are reported to patients. Classification of HCM genes and variants is critical, as misclassification can lead to genetic misdiagnosis. We show the validity of previously reported HCM...

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PMID: 30681346
DOI: 10.1161/circgen.119.002460

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