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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.
Saint-Martin C, Cauchois-Le Mière M, Rex E, Soukarieh O, Arnoux JB, Buratti J, Bouvet D, Frébourg T, Gaildrat P, Shyng SL, Bellanné-Chantelot C, Martins A. Saint-Martin C, et al. Among authors: cauchois le miere m. Hum Mutat. 2021 Apr;42(4):408-420. doi: 10.1002/humu.24164. Epub 2021 Jan 28. Hum Mutat. 2021. PMID: 33410562 Free PMC article.