Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R98W
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EDAR

NM_022336.4:p.R98W

Associated Papers

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Andreoni F et al.

Molecular Genetics & Genomic Medicine, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Chaudhary AK et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD et al.

The British Journal of Dermatology, 2012

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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."