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Delphine Bouvet

University of Paris

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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

2021 Human Mutation
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Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

2021 Diabetes
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Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome

2019 Gastroenterology
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Syndrome de Lynch : mise au point d'un test diagnostique basé sur la caractérisation fonctionnelle de tolérance à la méthylation des variants des gènes du système de réparation des mésappariements

2018
- Delphine Bouvet
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