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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN2

Variant:p.E231_N232Splc

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CLCN2

NM_004366.6:p.E231_N232Splc

hg38:chr3:184357777 A>C

Associated Papers

Mutations affecting GABAergic signaling in seizures and epilepsy.

Galanopoulou AS

Pflugers Archiv : European Journal of Physiology, 2010

20352446 (PubMed )

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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."