Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.M1insFs
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WDR45

NM_001029896.2:p.M1insFs

Associated Papers

Clinical features and underlying etiology of children with Lennox-Gastaut syndrome.

Zhou Z et al.

Journal of Neurology, 2024

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Lecoquierre F et al.

Scientific Reports, 2024

38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
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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."