Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.E231_N232Splc
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CLCN2

NM_004366.6:p.E231_N232Splc

Associated Papers

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."