Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.D166H
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MYL2

NM_000432.4:p.D166H

Associated Papers

Functional comparison of phosphomimetic S15D and T160D mutants of myosin regulatory light chain exchanged in cardiac muscle preparations of HCM and WT mice.

Kazmierczak K et al.

Frontiers in Cardiovascular Medicine, 2022

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.

Vio R et al.

Journal of Clinical Medicine, 2021

Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.

De Bortoli M et al.

Circulation. Genomic and Precision Medicine, 2020

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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."