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Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

International journal of molecular sciences - 23 Dec 2025

Rajesh Varsha, Ibarra Dora Evelyn, Yang Jing, Zhang Haichen, Barrett Amy, Kaplan Eleanor G, Kumthekar Amit, Sunden Fanny, Sun Han, Addala Ananta, Misakian Aaron, Letourneau-Freiberg Lisa R, Jodarski Colleen O, Maloney Kristin A, Saint-Martin Cécile, Fordyce Polly M, Pollin Toni I, Gloyn Anna L

Abstract excerpt

Precision medicine starts with a precision diagnosis. Yet up to 80% of cases of monogenic diabetes, a form of diabetes characterized by mutations in a single gene, are either overlooked or misdiagnosed. A genetic test for monogenic diabetes does not always lead to a precise diagnosis, as novel variants are often classified as variants of unknown significance. Variant interpretation requires collation of a...

Topics

Humans
Glucokinase
Diabetes Mellitus
Mutation
Diabetes Mellitus, Type 2
Genetic Variation
Insulin
Insulin-Secreting Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41516031
DOI: 10.3390/ijms27010156
PMCID: PMC12785307

Genes

GCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.PMID 41516031Read ↗

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