Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.G255_Q256delFs
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WDR72

NM_182758.4:p.G255_Q256delFs

Associated Papers

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.

Thakare S et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.

Sarker S et al.

Scientific Reports, 2023

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Personalized Medicine, 2023

Phenotypic variability in distal acidification defects associated with WDR72 mutations.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2021

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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."