A homozygous p.(Arg371Ser) mutation in FICD de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay
Luke A. Perera, Andrew Tym Hattersley, Heather P. Harding, Matthew Neil Wakeling, Sarah Elizabeth Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
EMBO Molecular Medicine · Jan 27, 2023Peer-reviewedGenetic & Genomic Medicine