Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R719G
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MYH7

NM_000257.4:p.R719G

Associated Papers

Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.

Österberg AW et al.

Journal of Cardiovascular Development and Disease, 2024

38667723 (PubMed )
Supplement: jcdd-11-00105-s001.zip › jcdd-2914809-supplementary.pdf

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition.

Robert-Paganin J et al.

Nature Communications, 2018

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

Tripathi S et al.

Basic Research in Cardiology, 2011

Spatial QRS-T angle can indicate presence of myocardial fibrosis in pediatric and young adult patients with hypertrophic cardiomyopathy.

Österberg AW et al.

Journal of Electrocardiology, 0

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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."