Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.M1T
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EDA

NM_001399.5:p.M1T

Associated Papers

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

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Yu K et al.

Clinical Genetics, 2022

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.

Liu Y et al.

Genetic Testing and Molecular Biomarkers, 2018

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.

Huang SX et al.

Genetics and Molecular Research : Gmr, 2015

[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

Zou C et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 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

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

Lexner MO et al.

Clinical Genetics, 2008

Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.

Zhao J et al.

The British Journal of Dermatology, 2008

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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."