Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L354del1
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EDA

NM_001399.5:p.L354del1

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

The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree.

Yin W et al.

Dermatology (basel, Switzerland), 2013

Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.

Conte C et al.

Genetic Testing, 2008

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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."