Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V71A
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GCK

NM_000162.5:p.V71A

Associated Papers

Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene.

Sozaeva LS et al.

Jcem Case Reports, 2024

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

Gilis-Januszewska A et al.

Genes, 2021

Human evidence for the involvement of insulin-induced gene 1 in the regulation of plasma glucose concentration.

Krapivner S et al.

Diabetologia, 2007

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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."