GeneticsbioRxivPreprint
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndrome.
Raniero Chimienti, Silvia Torchio, Gabriel Siracusano…·Lorenzo Piemonti
This study investigates how a WFS1 splice site mutation affects β cell apoptosis in Wolfram syndrome by analyzing alternative splicing and functional consequences in patient-derived iPSCs.
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