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

Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, Omar Soukarieh, Jean Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frébourg, Pascaline Gaildrat, Show Ling Shyng, Christine Bellanné-Chantelot, Alexandra Martins

Research output: Contribution to journal › Article › peer-review

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Medicine & Life Sciences