Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.V592fs
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MYBPC3

NM_000256.3:p.V592fs

Associated Papers

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB et al.

Circulation. Cardiovascular Genetics, 2017

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.

Carrier L et al.

Gene, 2015

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

Calore C et al.

Journal of Medical Genetics, 2015

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.

Jääskeläinen P et al.

Annals of Medicine, 2013

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

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.

Oliva-Sandoval MJ et al.

Heart (british Cardiac Society), 2010

A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.

Hirota T et al.

Journal of Cardiology, 2010

Are longitudinal, natural history studies the next step in genotype-phenotype translational genomics in hypertrophic cardiomyopathy?

Ackerman MJ et al.

Journal of the American College of Cardiology, 2005

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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."