Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.V59G
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EIF2AK3

NM_004836.7:p.V59G

Associated Papers

The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.

Lang V et al.

Pharmacogenomics and Personalized Medicine, 2010

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

Overview of neonatal diabetes.

Hamilton-Shield JP

Endocrine Development, 2007

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL et al.

Human Mutation, 2006

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS et al.

Annals of Medicine, 2005

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL et al.

The New England Journal of Medicine, 2004

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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."