Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.V145M
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WNT10A

NM_025216.3:p.V145M

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

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Esener Z et al.

Clinical Genetics, 2026

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Wu Y et al.

Human Genetics, 2024

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

Analyses of oligodontia phenotypes and genetic etiologies.

Zhou M et al.

International Journal of Oral Science, 2021

Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.

Zeng Y et al.

Journal of Dental Research, 2021

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

Güven Y et al.

Cytogenetic and Genome Research, 2019

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du R et al.

Human Genetics, 2018

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Dinckan N et al.

Journal of Dental Research, 2018

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

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

Mues G et al.

American Journal of Medical Genetics. Part A, 2014

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Vink CP et al.

European Journal of Human Genetics : Ejhg, 2014

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J et al.

American Journal of Medical Genetics. Part A, 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

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

van den Boogaard MJ et al.

Journal of Medical Genetics, 2012

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Petrof G et al.

The Australasian Journal of Dermatology, 2011

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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."