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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN4

Variant:p.G545D

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CLCN4

NM_001830.4:p.G545D

hg38:chrX:10213738 G>A

Associated Papers

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Palmer EE et al.

Molecular Psychiatry, 2023

36385166 (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."