Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.L228_V229del2
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WDR45

NM_001029896.2:p.L228_V229del2

Associated Papers

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari A et al.

Autophagy, 2022

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

WDR45 mutations in three male patients with West syndrome.

Nakashima M et al.

Journal of Human Genetics, 2016

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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."