Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.R128*
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WNT10A

NM_025216.3:p.R128*

Associated Papers

Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.

Guo X et al.

International Dental Journal, 2025

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

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

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

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

Abid MF et al.

Orthodontics & Craniofacial 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

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Vink CP et al.

European Journal of Human Genetics : Ejhg, 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

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

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Castori M et al.

Clinical Genetics, 2011

Phenotypic variability associated with WNT10A nonsense mutations.

Van Geel M et al.

The British Journal of Dermatology, 2010

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

Nagy N et al.

Journal of Dermatological Science, 2010

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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."