Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S336*
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GCK

NM_000162.5:p.S336*

Associated Papers

A Novel Glucokinase Mutation Causing Maturity-onset Diabetes of the Young: A Case Report.

Nie D et al.

British Journal of Hospital Medicine (london, England : 2005), 2025

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

Katashima R et al.

Journal of Diabetes Research, 2021

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations.

Yokota I et al.

Endocrine Journal, 2011

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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."