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Article

Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.

Journal of diabetes research - 1 Jan 2024

Ribeiro Andreia Fiúza, Fitas Ana Laura, Pires Marcela Oliveira, Matoso Paula, Ligeiro Dário, Sobral Daniel, Penha-Gonçalves Carlos, Demengeot Jocelyne, Caramalho Íris, Limbert Catarina

Abstract excerpt

Aims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA class II haplotyping, SNP genotyping, and T1D-genetic risk score (T1D-GRS)...

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Identifiers

PMID: 39364395
DOI: 10.1155/2024/3076895
PMCID: PMC11449554

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