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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR72

Variant:p.I159_M162ins1

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WDR72

NM_182758.4:p.I159_M162ins1

hg38:chr15:53715221 C>CATGCAGTTG

Associated Papers

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Personalized Medicine, 2023

36836560 (PubMed )

Phenotypic variability in distal acidification defects associated with WDR72 mutations.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2021

33033857 (PubMed )

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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."