Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.S719L
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CLCN2

NM_004366.6:p.S719L

Associated Papers

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

Li W et al.

Genomics, 2025

Disruption of ClC-2 expression is associated with progressive neurodegeneration in aging mice.

Cortez MA et al.

Neuroscience, 2010

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.

Combi R et al.

Brain Research Bulletin, 2009

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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."