Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y304N
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EDA

NM_001399.5:p.Y304N

Associated Papers

EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.

Rietmann SJ et al.

Genes, 2024

39062633 (PubMed )
Supplement: genes-15-00854-s001.zip › Table_S5_Private_Variants.xlsx › private_hom.prot.chang.variants

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

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Hammersen J et al.

Prenatal Diagnosis, 2019

Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

Dietz J et al.

European Journal of Pediatrics, 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."