Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.V700M
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MYH6

NM_002471.4:p.V700M

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

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

Heavy and light roles: myosin in the morphogenesis of the heart.

England J et al.

Cellular and Molecular Life Sciences : Cmls, 2013

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

Posch MG et al.

Plos One, 2011

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Granados-Riveron JT et al.

Human Molecular Genetics, 2010

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT et al.

Congenital Heart Disease, 0

The frequency of neoantigens per somatic mutation rather than overall mutational load or number of predicted neoantigens per se is a prognostic factor in ovarian clear cell carcinoma.

Matsushita H et al.

Oncoimmunology, 0

28920005 (PubMed )
Supplement: supplement_1.zip › KONI_A_1338996_s04.xlsx › Supplementary_Table_S3
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