Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › activity_scores
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members
Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.
Gutierrez-Nogués A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
Capuano M et al.
Plos One, 2012
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.
Codner E et al.
Pediatric Diabetes, 2009
Glucokinase mutations in young children with hyperglycemia.
Codner E et al.
Diabetes/metabolism Research and Reviews, 0
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