Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A254insFs
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WDR45

NM_001029896.2:p.A254insFs

Associated Papers

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Spagnoli C et al.

Genes, 2021

34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S2.xlsx › Sheet1

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.

Chard M et al.

Molecular Genetics and Metabolism Reports, 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."