Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R65G
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EDA

NM_001399.5:p.R65G

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

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Wu Y et al.

Human Genetics, 2024

Advances in tooth agenesis and tooth regeneration.

Ravi V et al.

Regenerative Therapy, 2023

Oligodontia and curly hair occur with ectodysplasin-a mutations.

Lee KE et al.

Journal of Dental Research, 2014

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

Nikopensius T et al.

Journal of Dental Research, 2013

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

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

Schneider H et al.

Journal of Medical Genetics, 2011

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

Mues G et al.

European Journal of Human Genetics : Ejhg, 2010

EDA gene mutations underlie non-syndromic oligodontia.

Song S et al.

Journal of Dental Research, 2009

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.

Fan H et al.

European Journal of Oral Sciences, 2008

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 Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Tarpey P et al.

American Journal of Medical Genetics. Part A, 2007

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

Tao R et al.

Journal of Human Genetics, 2006

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

Huang C et al.

Journal of Human Genetics, 2006

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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."