Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y320C
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EDA

NM_001399.5:p.Y320C

Associated Papers

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

Yu K et al.

Oral Diseases, 2024

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.

Su L et al.

International Journal of Molecular Sciences, 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

Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.

Ranjan P et al.

Journal of Cellular Biochemistry, 2022

[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].

Wu JY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2020

[Mutation screening and functional analysis for 8 patients with ectodermal dysplasia].

Zhao K et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2019

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

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

Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A).

Li S et al.

Plos One, 2008

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M et al.

Journal of Human Genetics, 2008

[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].

Zhang H et al.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007

[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].

Wang Y et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2003

Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.

Zhang XJ et al.

Archives of Dermatological Research, 2003

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P et al.

The Journal of Biological Chemistry, 2001

Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

Zhang J et al.

European Journal of Medical Genetics, 0

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