Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.R1055Q
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MYH6

NM_002471.4:p.R1055Q

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sapp.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
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