Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A209D
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WDR45

NM_007075.4:p.A209D

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

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

Chen H et al.

European Journal of Medical Genetics, 2019

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

Carvill GL et al.

Epilepsia, 2018

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A et al.

Journal of the Neurological Sciences, 2015

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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."