Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.R113C
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WNT10A

NM_025216.3:p.R113C

Associated Papers

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Kovalskaia VA et al.

Orphanet Journal of Rare Diseases, 2026

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer.

Bielik P et al.

Clinical Oral Investigations, 2022

WNT10A and RUNX2 mutations associated with non-syndromic tooth agenesis.

Živković M et al.

European Journal of Oral Sciences, 2022

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Biedziak B et al.

Journal of Clinical Medicine, 2022

Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.

Zeng Y et al.

Journal of Dental Research, 2021

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Fokkema IFAC et al.

Human Mutation, 2019

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

WNT10A mutation results in severe tooth agenesis in a family of three sisters.

Abid MF et al.

Orthodontics & Craniofacial Research, 2018

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies.

Mostowska A et al.

European Journal of Oral Sciences, 2015

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Yang J et al.

Molecular Genetics & Genomic Medicine, 2015

25629078 (PubMed )
Supplement: mgg30003-0040-sd1.docx

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Vink CP et al.

European Journal of Human Genetics : Ejhg, 2014

Disulfide bond requirements for active Wnt ligands.

MacDonald BT et al.

The Journal of Biological Chemistry, 2014

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Arzoo PS et al.

American Journal of Medical Genetics. Part A, 2014

Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Mostowska A et al.

Clinical Genetics, 2013

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Arte S et al.

Plos One, 2013

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