Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.G165R
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WNT10A

NM_025216.3:p.G165R

Associated Papers

Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree.

Mo R et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

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

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Cesarato N et al.

The British Journal of Dermatology, 2023

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 and RUNX2 mutations associated with non-syndromic tooth agenesis.

Živković M et al.

European Journal of Oral Sciences, 2022

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Jiang X et al.

Communications Biology, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Case Report of Childhood-Onset Psychosis in a Patient with a Known WNT10A Mutation.

Kobza AO et al.

Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal De L'academie Canadienne De Psychiatrie De L'enfant Et De L'adolescent, 2019

Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Ruiz-Heiland G et al.

Clinical Oral Investigations, 2019

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Papuc SM et al.

European Journal of Human Genetics : Ejhg, 2019

30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx

WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.

Grejtakova D et al.

Journal of Genetics, 2018

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

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

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Bohring A 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."