Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q791_S792insFs
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MYH7

NM_000257.4:p.Q791_S792insFs

Associated Papers

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

Regional myocardial function at preclinical disease stage of hypertrophic cardiomyopathy in female gene variant carriers.

Parbhudayal RY et al.

The International Journal of Cardiovascular Imaging, 2021

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA et al.

European Journal of Human Genetics : Ejhg, 2018

29988065 (PubMed )
Supplement: 41431_2018_208_MOESM1_ESM.docx

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

van Dijk SJ et al.

Pflugers Archiv : European Journal of Physiology, 2014

The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.

Kolder IC et al.

European Journal of Human Genetics : Ejhg, 2012

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function.

van Dijk SJ et al.

Circulation. Heart Failure, 2012

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

Christiaans I et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2010

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

García-Castro M et al.

International Journal of Cardiology, 2005

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M et al.

European Heart Journal, 2003

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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."