Varaico: Literature-Extracted Genetic Variants

Gene:WDR73
Variant:p.S134delFs
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WDR73

NM_032856.5:p.S134delFs

Associated Papers

Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.

Yang YL et al.

Neurology. Genetics, 2025

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Eskander J et al.

Ophthalmic Genetics, 2025

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Al-Rakan MA et al.

Bmc Ophthalmology, 2018

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Vodopiutz J et al.

Human Mutation, 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."