Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q306H
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EDA

NM_001399.5:p.Q306H

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

A novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia.

Mintoff D et al.

Clinical and Experimental Dermatology, 2021

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.

Monroy-Jaramillo N et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

Yang Y et al.

Journal of Dental Research, 2013

23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf

A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.

Hsu MM et al.

The British Journal of Dermatology, 2003

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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."