Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.L19L
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PRH2

NM_001110213.1:p.L19L

Associated Papers

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

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

Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations.

Kazmierczak K et al.

Frontiers in Physiology, 2014

Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy.

Kazmierczak K et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2013

TATA box polymorphisms in human gene promoters and associated hereditary pathologies.

Savinkova LK et al.

Biochemistry. Biokhimiia, 2009

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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."