Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q254*
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EDA

NM_001399.5:p.Q254*

Associated Papers

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

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

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

Kamat D et al.

Indian Journal of Dermatology, 0

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