Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L184P
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GCK

NM_000162.5:p.L184P

Associated Papers

Many faces of monogenic diabetes.

Schwitzgebel VM

Journal of Diabetes Investigation, 2014

Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).

Cuesta-Muñoz AL et al.

Diabetes Care, 2010

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

Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.

Fajans SS et al.

Diabetologia, 2006

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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."