Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V199L
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GCK

NM_000162.5:p.V199L

Associated Papers

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.

Taylor RAM et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2019

The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

Komazec J et al.

Endokrynologia Polska, 2019

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 2017

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf

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
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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."