Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A13T
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MYH7

NM_000257.4:p.A13T

Associated Papers

Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Schmid M et al.

Biology Open, 2021

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S et al.

Pflugers Archiv : European Journal of Physiology, 2019

Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice.

Kazmierczak K et al.

The Biochemical Journal, 2012

Mutations in sarcomere protein genes in left ventricular noncompaction.

Klaassen S et al.

Circulation, 2008

Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

Szczesna-Cordary D et al.

The Journal of Biological Chemistry, 2004

Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.

Andersen PS et al.

Journal of Medical Genetics, 2001

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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."