Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.E619Splc
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CLCN2

NM_004366.6:p.E619Splc

Associated Papers

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Refeat MM et al.

Neurogenetics, 2023

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

Saint-Martin C et al.

Human Mutation, 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."