Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.R248*
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WNT10A

NM_025216.3:p.R248*

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

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.

García-Martínez VE et al.

Children (basel, Switzerland), 2023

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

Yue H et al.

Molecular Genetics & Genomic Medicine, 2022

Early diagnosis of Schöpf-Schulz-Passarge syndrome by whole-exome sequencing: the first Chinese case.

Ren JN et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3

Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members.

Zimmermann CE et al.

Acta Dermato-venereologica, 2019

Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Yu M et al.

American Journal of Medical Genetics. Part A, 2019

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.

Zeng B et al.

Genes, 2017

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

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

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."