Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.A413V
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CLCN3

NM_001829.4:p.A413V

Associated Papers

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.

Nakashima M et al.

Journal of Human Genetics, 2023

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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."