Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R25*
Back to variants list

EDAR

NM_022336.4:p.R25*

Associated Papers

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.

Thaweesapphithak S et al.

Bmc Oral Health, 2025

The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.

Gao Y et al.

Frontiers in Genetics, 2023

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

Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.

Zhang L et al.

Human Mutation, 2020

Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.

Khan SA et al.

European Journal of Dermatology : Ejd, 2020

A first case report of hypohidrotic ectodermal dysplasia from Oman.

Al-Araimi M et al.

Clinical Case Reports, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."