Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.G269V
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GPR50

NM_004224.3:p.G269V

Associated Papers

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

A unique type II topoisomerase mutant that is hypersensitive to a broad range of cleavage-inducing antitumor agents.

O'Reilly EK et al.

Biochemistry, 2002

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."