Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.I195F
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CLCN4

NM_001830.4:p.I195F

Associated Papers

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE et al.

Molecular Psychiatry, 2018

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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."