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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR45

Variant:p.L252P

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WDR45

NM_001029896.2:p.L252P

hg38:chrX:49075436 A>G

Associated Papers

A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.

Mou C et al.

Gene, 2025

39500384 (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."