Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.H252N
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EDA

NM_001399.5:p.H252N

Associated Papers

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

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clauss F et al.

Clinical Genetics, 2010

Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.

Clauss F et al.

Journal of Dental Research, 2008

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