Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L293R
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EDA

NM_001399.5:p.L293R

Associated Papers

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Yao L et al.

Bmc Pregnancy and Childbirth, 2025

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Han Y et al.

Frontiers in Genetics, 2020

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.

Rahbaran M et al.

Cellular & Molecular Biology Letters, 2019

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

He F et al.

Bmc Medical Genetics, 2018

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.

Xue JJ et al.

Genetics and Molecular Research : Gmr, 2015

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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."