Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q98*
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GCK

NM_000162.5:p.Q98*

Associated Papers

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Al Senani A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.

Oriola J et al.

Jimd Reports, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.

Bennett K et al.

Pediatric Diabetes, 2011

Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).

Martin D et al.

Diabetes Care, 2008

18411240 (PubMed )
Supplement: dc07-2017_1.pdf

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Velho G et al.

Diabetologia, 1997

Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.

Iwasaki N et al.

Acta Diabetologica, 1995

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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."