Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.V235I
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GAPDH

NM_002046.7:p.V235I

Associated Papers

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R et al.

Scientific Reports, 2015

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S et al.

Gut, 2013

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.

Li N et al.

Molecular Vision, 2011

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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."