Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.W126*
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WDR72

NM_182758.4:p.W126*

Associated Papers

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

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.

Zhang H et al.

Journal of Dental Research, 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."