Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P164S
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PRH1

NM_001393989.1:p.P164S

Associated Papers

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations.

Lobo PA et al.

Structure (london, England : 1993), 2009

Effect of amino acid substitutions in the epitope regions of pyolysin from Arcanobacterium pyogenes.

Imaizumi K et al.

Veterinary Microbiology, 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."