Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.Q4*
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WDR45

NM_001029896.2:p.Q4*

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

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

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Tang X et al.

Molecular Genetics & Genomic Medicine, 2020

[A phenotypic and genetic study on β-propeller protein-associated neurodegeneration].

Li WH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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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."