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Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia

Abstract Background To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS) panel. Methods Molecular and clinical...

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Main Authors: Pedro Campos Franco, Augusto Cezar Santomauro Jr, Aline Dantas Costa-Riquetto, Lucas Santos de Santana, Larissa Garcia Gomes, Alexander Augusto de Lima Jorge, Milena Gurgel Teles
Format: Artigo
Sprog:Inglês
Udgivet: Nature Portfolio 2025-10-01
Serier:Communications Medicine
Online adgang:https://doi.org/10.1038/s43856-025-01031-1
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