Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.N602S
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MYH7

NM_000257.4:p.N602S

Associated Papers

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

Page SP et al.

Circulation. Cardiovascular Genetics, 2012

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

A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.

Havndrup O et al.

Scandinavian Cardiovascular Journal : Scj, 2000

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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."