Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.C332Y
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EDA

NM_001399.5:p.C332Y

Associated Papers

Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Faria-Teixeira MC et al.

Pediatric Research, 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

Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

Yang Y et al.

Journal of Dental Research, 2013

23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Liu Y et al.

Gene, 2012

[Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector].

Lei K et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2009

EDA gene mutations underlie non-syndromic oligodontia.

Song S et al.

Journal of Dental Research, 2009

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Pääkkönen K et al.

Human Mutation, 2001

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