Article

A comprehensive map of human glucokinase variant activity

2022-05-05

Abstract excerpt

Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia (HH) or hyperglycemia associated with GCK-maturity-onset diabetes of the young (GCK-MODY), collectively affecting up to 10 million people worldwide. Patients with GCK-MODY are frequently misdiagnosed and treated unnecessarily. Genetic testing ca...

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Literature Corpus work: 7c3b70bb-cc5f-5823-a890-45eaddb0ed74
DOI: 10.1101/2022.05.04.490571

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