Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R688Q
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CLCN2

NM_004366.6:p.R688Q

Associated Papers

The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy.

Li W et al.

Genomics, 2025

Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?

Jeworutzki E et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2021

The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.

Bai H et al.

Genome Biology and Evolution, 2014

Regulation of ClC-2 gating by intracellular ATP.

Stölting G et al.

Pflugers Archiv : European Journal of Physiology, 2013

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Klassen T et al.

Cell, 2011

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C et al.

Human Mutation, 2009

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

Blanz J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Stogmann E et al.

Neurogenetics, 2006

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

D'Agostino D et al.

Neurology, 2004

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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."