Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S305R
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EDA

NM_001399.5:p.S305R

Associated Papers

Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation.

Bao DY et al.

Heliyon, 2024

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf

A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.

Liu G et al.

Archives of Oral Biology, 2019

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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."