Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.S75*
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WDR45

NM_001029896.2:p.S75*

Associated Papers

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Zhang S et al.

Pediatric Research, 2025

40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1

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

Mou C et al.

Gene, 2025

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

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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."