Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.A1366D
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MYH6

NM_002471.4:p.A1366D

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

Young and early-onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations.

Zhao T et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2021

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

28274167 (PubMed )
Supplement: supplement_1.doc

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

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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."