Associated Papers
Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.
De Sousa SMC et al.
Acta Diabetologica, 2025
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.
Bouvet D et al.
Human Mutation, 2023
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Santana LS et al.
Clinical Genetics, 2017
Glucokinase mutations in pediatric patients with impaired fasting glucose.
Aloi C et al.
Acta Diabetologica, 2017
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