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

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."