Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.T346M
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EDAR

NM_022336.4:p.T346M

Associated Papers

EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.

Yao Y et al.

Cell & Bioscience, 2023

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.

Haghighi A et al.

The British Journal of Dermatology, 2013

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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."