Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.E281G
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CLCN5

NM_001127898.4:p.E281G

Associated Papers

Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.

Chang MH et al.

The Journal of Biological Chemistry, 2020

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Bignon Y et al.

Human Mutation, 2018

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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."