Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.V324E
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EDA

NM_001399.5:p.V324E

Associated Papers

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

Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.

Park JS et al.

Cytogenetic and Genome Research, 2019

A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.

Kinyó A et al.

Archives of Dermatological Research, 2014

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