Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R420W
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EDAR

NM_022336.4:p.R420W

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

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Kim MJ et al.

Orphanet Journal of Rare Diseases, 2024

EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.

Yao Y et al.

Cell & Bioscience, 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

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.

Wohlfart S et al.

Clinical Genetics, 2019

Rare and Common Variants Conferring Risk of Tooth Agenesis.

Jonsson L et al.

Journal of Dental Research, 2018

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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."