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Article

Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.

Pediatric diabetes - 1 Nov 2021

Tosur Mustafa, Soler-Alfonso Claudia, Chan Katie M, Khayat Michael M, Jhangiani Shalini N, Meng Qingchang, Refaey Ahmad, Muzny Donna, Gibbs Richard A, Murdock David R, Posey Jennifer E, Balasubramanyam Ashok, Redondo Maria J, Sabo Aniko

Abstract excerpt

OBJECTIVE: Commercial gene panels identify pathogenic variants in as low as 27% of patients suspected to have MODY, suggesting the role of yet unidentified pathogenic variants. We sought to identify novel gene variants associated with MODY. RESEARCH DESIGN AND METHODS: We recruited 10 children with a clinical suspicion of MODY but non-diagnostic commercial MODY gene panels. We performed exome sequencing (ES) in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34387403
DOI: 10.1111/pedi.13257
PMCID: PMC8530905

Genes

INS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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