Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.L841Q
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WDR72

NM_182758.4:p.L841Q

Associated Papers

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Personalized Medicine, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Phenotypic variability in distal acidification defects associated with WDR72 mutations.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2021

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2

Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.

Rungroj N et al.

Clinical Genetics, 2018

Familial acidosis of renal tubular origin.

WILANSKY DL et al.

Canadian Medical Association Journal, 1960

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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."