Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q358*
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EDA

NM_001399.5:p.Q358*

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 EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2021

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Hammersen J et al.

Prenatal Diagnosis, 2019

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Wohlfart S et al.

Journal of Human Genetics, 2016

Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

Zhang J et al.

European Journal of Medical Genetics, 0

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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."