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
Published in 2022 by
Luke A. Perera,
Andrew T. Hattersley,
Heather P. Harding,
Matthew N. Wakeling,
Sarah E. Flanagan,
Ibrahim Moshina,
Jamal Raza,
Alice Gardham,
David Ron,
Elisa De Franco 
