Associated Papers
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi M et al.
Current Diabetes Reports, 2024
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.
Sampathkumar G et al.
Journal of Endocrinological Investigation, 2022
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.
Timmers M et al.
Diabetes/metabolism Research and Reviews, 2021
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family.
Lin L et al.
Frontiers in Endocrinology, 2020
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