Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.L62delFs
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WDR45

NM_001029896.2:p.L62delFs

Associated Papers

Beta-propeller protein-associated neurodegeneration: A clinical update with a case report.

Mansour MA et al.

Eneurologicalsci, 2023

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

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

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

Gavazzi F et al.

Molecular Genetics and Metabolism, 0

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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."