Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.E211Q
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CLCN5

NM_000084.5:p.E211Q

Associated Papers

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

Bignon Y et al.

Human Mutation, 2018

ClC-3 is an intracellular chloride/proton exchanger with large voltage-dependent nonlinear capacitance.

Guzman RE et al.

Acs Chemical Neuroscience, 2013

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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."