Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.F284L
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EDA

NM_001399.5:p.F284L

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

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Han Y et al.

Frontiers in Genetics, 2020

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Zeng B et al.

Genes, 2016

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

Zeng B et al.

Oral Diseases, 2015

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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."