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.