Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R719P
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MYH7

NM_000257.4:p.R719P

Associated Papers

Mavacamten inhibits myosin activity by stabilising the myosin interacting-heads motif and stalling motor force generation.

McMillan SN et al.

Biorxiv : the Preprint Server for Biology, 2025

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Perspectives on current recommendations for genetic testing in HCM.

Monserrat L

Global Cardiology Science & Practice, 2018

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Marsiglia JD et al.

American Heart Journal, 2013

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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."