Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q113*
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EDA

NM_001399.5:p.Q113*

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

41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.

Alksere B et al.

Molecular Genetics and Metabolism Reports, 2021

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

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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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."