Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L49H
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EDA

NM_001399.5:p.L49H

Associated Papers

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

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

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

Wang X et al.

Medicine, 2020

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

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Case of Hermansky-Pudlak syndrome 1 in a Japanese infant.

Tanaka M et al.

The Journal of Dermatology, 2015

Case of X-linked hypohidrotic ectodermal dysplasia with a novel EDA missense mutation.

Yasuda M et al.

The Journal of Dermatology, 2015

Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations.

Minakawa S et al.

The Journal of Dermatology, 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."