Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y215C
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GCK

NM_000162.5:p.Y215C

Associated Papers

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.

Sabi SH et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Li C et al.

Diabetes, 2023

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."