Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S267S
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EDA

NM_001399.5:p.S267S

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

Yao L et al.

Bmc Pregnancy and Childbirth, 2025

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

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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."