학술논문
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Document Type
Article
Author
Jones, Amy G.; Aquilino, Matilde; Tinker, Rory J.; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L.; DeWard, Stephanie J.; Grange, Dorothy K.; Hajianpour, MJ; Halliday, Benjamin J.; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I.; Polster, Tilman; Spano, Alice; Gómez-Lozano, Inés; Kumar, Abhishek; Poke, Gemma; Phillips, John A., III; Underhill, Hunter R.; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P.
Source
In The American Journal of Human Genetics 4 April 2024 111(4):729-741
Subject
Language
ISSN
0002-9297