Varaico: Literature-Extracted Genetic Variants

Gene:WDR73
Variant:p.Q235*
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WDR73

NM_032856.5:p.Q235*

Associated Papers

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.

Araji S et al.

Clinical Genetics, 2026

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Vodopiutz J et al.

Human Mutation, 2015

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T et al.

Journal of Medical Genetics, 2015

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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."