Article
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Circulation. Cardiovascular genetics - 1 Aug 2017
Burns Charlotte, Bagnall Richard D, Lam Lien, Semsarian Christopher, Ingles Jodie
Abstract excerpt
BACKGROUND: Multiple likely pathogenic/pathogenic (LP/P; ≥2) variants in patients with hypertrophic cardiomyopathy were described 10 years ago with a prevalence of 5%. We sought to re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopathy in the setting of comprehensive and targeted panels. METHODS AND RESULTS: Of 758 hypertrophic cardiomyopathy probands, we included 382...
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