Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.A349V
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EDA

NM_001399.5:p.A349V

Associated Papers

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Xing Q et al.

Oral Diseases, 2024

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

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.

Wang X et al.

Medicine, 2020

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