Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R447L
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GCK

NM_000162.5:p.R447L

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

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

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › hyper-variants-positive-dddG

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

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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."