Varaico: Literature-Extracted Genetic Variants

Gene:MYL3
Variant:p.E152K
Back to variants list

MYL3

NM_000258.3:p.E152K

Associated Papers

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

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

Yampolskaya DS et al.

Biochemistry. Biokhimiia, 2022

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

Thick Filament Protein Network, Functions, and Disease Association.

Wang L et al.

Comprehensive Physiology, 2018

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."