Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R73H
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CLCN2

NM_004366.6:p.R73H

Associated Papers

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

Li W et al.

Genomics, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS08_het

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Ma T et al.

Nature Communications, 2023

A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.

Dutta RK et al.

European Journal of Endocrinology, 2019

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Traboulsee AL et al.

Human Genetics, 2017

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

Klassen T et al.

Cell, 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."