Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.S209*
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WDR45

NM_001029896.2:p.S209*

Associated Papers

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.

Chen H et al.

European Journal of Medical Genetics, 2019

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Stige KE et al.

Clinical Case Reports, 2018

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL et al.

Epilepsia, 2018

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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."