Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.L135_E137delFs
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WDR45

NM_001029896.2:p.L135_E137delFs

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

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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."