Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.G731R
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CIC

NM_001386298.1:p.G731R

Associated Papers

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.

Guzman RE et al.

Frontiers in Molecular Neuroscience, 2022

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

27550844 (PubMed )
Supplement: mp2016135x1.doc
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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."