Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; ... Brusco, Alfredo; + view all (2023) Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. Genetics in Medicine , 25 (11) , Article 100922. 10.1016/j.gim.2023.100922. Green open access