Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.R956*
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WDR72

NM_182758.4:p.R956*

Associated Papers

Etiology and outcomes of primary renal tubular acidosis.

Priyadarshini S et al.

Pediatric Nephrology (berlin, Germany), 2025

Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

Deepthi B et al.

Pediatric Nephrology (berlin, Germany), 2025

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."