Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A276Splc
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WDR45

NM_001029896.2:p.A276Splc

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

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Morisada N et al.

No to Hattatsu = Brain and Development, 2016

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ et al.

Brain : a Journal of Neurology, 2013

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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."