Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R54*
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MYH7

NM_000257.4:p.R54*

Associated Papers

Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.

Fourey D et al.

Circulation. Cardiovascular Genetics, 2017

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Tsoutsman T et al.

Clinical and Experimental Pharmacology & Physiology, 2008

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL et al.

Journal of the American College of Cardiology, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."