Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R190T
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MYH7

NM_000257.4:p.R190T

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Understanding hypertrophic cardiomyopathy and its regulation by myosin drugs.

Halder R et al.

Protein Science : a Publication of the Protein Society, 2025

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.

Burykina Y et al.

International Journal of Molecular Sciences, 2025

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

Jensen MK et al.

Circulation, 2013

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

Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

Bundgaard H et al.

Journal of Molecular and Cellular Cardiology, 1999

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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."