Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.S783*
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WDR72

NM_182758.4:p.S783*

Associated Papers

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Personalized Medicine, 2023

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_S4-1_Final_021921.xlsx › Table_S3.1

Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.

Zhang C et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015

WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.

Katsura KA et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2014

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.

Kuechler A et al.

Molecular Syndromology, 2012

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.

El-Sayed W et al.

Cells, Tissues, Organs, 2011

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

El-Sayed W et al.

American Journal of Human Genetics, 2009

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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."