Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.F251_L252del1
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WDR45

NM_001029896.2:p.F251_L252del1

Associated Papers

Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.

Gerik-Celebi HB et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

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

Lessons from a pair of siblings with BPAN.

Zarate YA et al.

European Journal of Human Genetics : Ejhg, 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."