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Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization

2024-03-12

Abstract excerpt

<title>Abstract</title> <p> <bold>Aim:</bold> Our objective is to enhance the molecular diagnostic precision in a cohort of unresolved monogenic diabetes cases, previously investigated by next-generation sequencing target panel (tNGS), through comprehensive bidirectional phenotypic and genotypic reanalysis. <bold>Methods:</bold> We analyzed molecular and clinical data from 128 unresolved cases referred betwee...

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Literature Corpus work
4044f351-56a7-5e9b-91cf-e1523e054eea
DOI
10.21203/rs.3.rs-3857731/v1
Open publication

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Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterizationDOI 10.21203/rs.3.rs-3857731/v1
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