Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E308_V309Splc
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EDA

NM_001399.5:p.E308_V309Splc

Associated Papers

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.

Kamat D et al.

Indian Journal of Dermatology, 0

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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."