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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: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Portfolio
2025-10-01
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| Colecção: | Communications Medicine |
| Acesso em linha: | https://doi.org/10.1038/s43856-025-01031-1 |
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