Varaico: Literature-Extracted Genetic Variants

Gene:MYL3
Variant:p.E56G
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MYL3

NM_000258.3:p.E56G

Associated Papers

Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.

Yampolskaya DS et al.

Biochemistry. Biokhimiia, 2022

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Osborn DPS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.

Ma N et al.

Circulation, 2018

Essential Light Chains of Myosin and Their Role in Functioning of the Myosin Motor.

Logvinova DS et al.

Biochemistry. Biokhimiia, 2018

A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.

Rani DS et al.

Cardiology, 2018

A Cardiomyopathy Mutation in the Myosin Essential Light Chain Alters Actomyosin Structure.

Guhathakurta P et al.

Biophysical Journal, 2017

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Molecular mechanism regulating myosin and cardiac functions by ELC.

Lossie J et al.

Biochemical and Biophysical Research Communications, 2014

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

Jay A et al.

Cardiology, 2013

Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.

Lossie J et al.

Cardiovascular Research, 2012

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Andersen PS et al.

Biochemistry Research International, 2012

Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.

Muthu P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Harris SP et al.

Circulation Research, 2011

Myosin essential light chain in health and disease.

Hernandez OM et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P et al.

Circulation, 2003

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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."