Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E63K
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EDA

NM_001399.5:p.E63K

Associated Papers

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.

Huang SX et al.

Genetics and Molecular Research : Gmr, 2015

Genetics of keratoconus: where do we stand?

Abu-Amero KK et al.

Journal of Ophthalmology, 2014

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Gambardella S

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Gambardella S

Human Genetics, 2008

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P et al.

The Journal of Biological Chemistry, 2001

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent MC et al.

European Journal of Human Genetics : Ejhg, 2001

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

Ferguson BM et al.

Journal of Medical Genetics, 1998

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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."