Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E69Splc
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GCK

NM_033508.3:p.E69Splc

Associated Papers

Frequency and spectrum of glucokinase mutations in an adult Maltese population.

Pace NP et al.

Acta Diabetologica, 2022

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK et al.

Human Mutation, 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."