Varaico: Literature-Extracted Genetic Variants

Gene:WDFY3
Variant:p.N250S
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WDFY3

NM_014991.6:p.N250S

Associated Papers

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D et al.

Brain : a Journal of Neurology, 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."