Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.L182_V194del0
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EDARADD

NM_145861.4:p.L182_V194del0

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

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Martínez-Romero MC et al.

Orphanet Journal of Rare Diseases, 2019

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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."