Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E440G
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GCK

NM_000162.5:p.E440G

Associated Papers

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

Shammas C et al.

Metabolism: Clinical and Experimental, 2013

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Barbetti F et al.

Molecular Endocrinology (baltimore, Md.), 2009

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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."