Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G2C
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EDA

NM_001399.5:p.G2C

Associated Papers

Dirichlet latent modelling enables effective learning and sampling of the functional protein design space.

Lobzaev E et al.

Nature Communications, 2024

39468034 (PubMed )
Supplement: 41467_2024_53622_MOESM2_ESM.pdf

Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.

Podzus J et al.

Journal of Dental Research, 2017

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

Dietz J et al.

European Journal of Pediatrics, 2013

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

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

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

Vincent MC et al.

European Journal of Human Genetics : Ejhg, 2001

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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."