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Article

Utility of next-generation sequencing for the genetic study of MODY diabetes.

The Journal of endocrinology - 1 Feb 2026

Expósito García Marta, Sarabia Meseguer María Desamparados, Hernández Martínez Antonio Miguel, Aragón Alonso Aurora, Fernández López Manuela, Macanás Botía Gabriel Angel, Illán Gómez María Fátima, Kyriakos Georgios, Hernández López Antonio, Cerón Moreno Ana María, Guirao Blázquez Cristina, Sánchez Cuenca Juan José, Pascual Gilabert Patricia, Antón Martínez David, Noguera Velasco José Antonio, Ruiz Espejo Francisco

Abstract excerpt

Next-generation sequencing (NGS) is increasingly used for diagnosing monogenic forms of diabetes, including maturity-onset diabetes of the young (MODY). We aimed to evaluate the utility of NGS in patients with clinical suspicion of MODY, analyzing genotype-phenotype correlations. A total of 150 unrelated patients from the Region of Murcia (Spain) with suspected MODY were included. Whole-exome sequencing was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41670436
DOI: 10.1530/JOE-25-0344

Genes

ADA
GCK
HNF1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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