Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.G123E
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PRH2

NM_001110213.1:p.G123E

Associated Papers

Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ.

Seki T et al.

Journal of Pharmacological Sciences, 2011

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Wheeler RB et al.

American Journal of Human Genetics, 2002

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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."