Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.E29K
Back to variants list

EDARADD

NM_145861.4:p.E29K

Associated Papers

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Kablan A et al.

Italian Journal of Pediatrics, 2024

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Ahmed HA et al.

Genes, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."