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, A.G.; Jenkins, Z.; Halliday, B.J.; Robertson, S.P.; Aquilino, M.; Gómez-Lozano, I.; Namba, T.; Tinker, R.J.; Phillips, J.A.; Duncan, L.; Carvill, G.L.; DeWard, S.J.; Grange, D.K.; Hajianpour, M.J.; Holder-Espinasse, M.; Horvath, J.; Paul, V.; Maitz, S.; Nigro, V.; Morleo, M.; Spencer, C.; Esterhuizen, A.I.; Polster, T.; Spano, A.; Kumar, A.; Poke, G.; Underhill, H.R.; Gimenez, G.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 April 2024, 111(4):729-741)
Subject
Language
English
ISSN
15376605
00029297
00029297