A comprehensive map of human glucokinase variant activity

A comprehensive map of human glucokinase variant activity

Abstract Background Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-maturity-onset diabetes of the young (GCK-MODY), collectively affecting...

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Bibliographic Details
Main Authors: Sarah Gersing, Matteo Cagiada, Marinella Gebbia, Anette P. Gjesing, Atina G. Coté, Gireesh Seesankar, Roujia Li, Daniel Tabet, Jochen Weile, Amelie Stein, Anna L. Gloyn, Torben Hansen, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Genome Biology
Subjects:
Diabetes
Variants of uncertain significance
Deep mutational scanning
Online Access:https://doi.org/10.1186/s13059-023-02935-8

Internet

https://doi.org/10.1186/s13059-023-02935-8

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