Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.I388T
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EDAR

NM_022336.4:p.I388T

Associated Papers

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.

Yagi S et al.

The Journal of Dermatology, 2023

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

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.

Naqvi SK et al.

Orthodontics & Craniofacial Research, 2011

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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."