Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R334H
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EDA

NM_001399.5:p.R334H

Associated Papers

Novel missense mutations in the tumor necrosis factor domain of Ectodysplasin-A cause non-syndromic tooth agenesis in two Chinese families.

Yang C et al.

Archives of Oral Biology, 2026

Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.

Guo X et al.

International Dental Journal, 2025

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Xing Q et al.

Oral Diseases, 2024

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

Yu K et al.

Oral Diseases, 2024

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.

Zhou Y et al.

Oral Diseases, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

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_MOESM2_ESM.pdf

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

[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

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

He F et al.

Bmc Medical Genetics, 2018

Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

Shen W et al.

Plos One, 2016

Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

Zhang XX et al.

The Chinese Journal of Dental Research, 2015

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

Mutations in the PAX9 gene in sporadic oligodontia.

Pawlowska E et al.

Orthodontics & Craniofacial Research, 2010

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

Mues G et al.

European Journal of Human Genetics : Ejhg, 2010

A common founder mutation in the EDA-A1 gene in X-linked hypodontia.

Kurban M et al.

Dermatology (basel, Switzerland), 2010

EDA gene mutations underlie non-syndromic oligodontia.

Song S et al.

Journal of Dental Research, 2009

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