Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R17H
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MYH7

NM_000257.4:p.R17H

Associated Papers

Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.

Rao VJ et al.

Journal of the American Heart Association, 2025

41128141 (PubMed )
Supplement: JAH3-14-e042036-s001.pdf

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG et al.

Plos One, 2011

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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."