Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A454_V455ins0
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GCK

NM_000162.5:p.A454_V455ins0

Associated Papers

Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.

Boodhansingh KE et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Boodhansingh KE et al.

European Journal of Endocrinology, 2022

Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).

Gilis-Januszewska A et al.

Genes, 2021

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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."