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Clustered de novo start-loss variants in GLUL result in a d..:
Jones, Amy G.
;
Aquilino, Matilde
;
Tinker, Rory J.
...
The American Journal of Human Genetics. 111 (2024) 4 - p. 729-741 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2024.03.005
RT Journal T1
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2024.03.005&Exemplar=1&LAN=DE A1 Jones, Amy G. A1 Aquilino, Matilde A1 Tinker, Rory J. A1 Duncan, Laura A1 Jenkins, Zandra A1 Carvill, Gemma L. A1 DeWard, Stephanie J. A1 Grange, Dorothy K. A1 Hajianpour, MJ A1 Halliday, Benjamin J. A1 Holder-Espinasse, Muriel A1 Horvath, Judit A1 Maitz, Silvia A1 Nigro, Vincenzo A1 Morleo, Manuela A1 Paul, Victoria A1 Spencer, Careni A1 Esterhuizen, Alina I. A1 Polster, Tilman A1 Spano, Alice A1 Gómez-Lozano, Inés A1 Kumar, Abhishek A1 Poke, Gemma A1 Phillips III, John A. A1 Underhill, Hunter R. A1 Gimenez, Gregory A1 Namba, Takashi A1 Robertson, Stephen P. PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 4 SP 729 OP 741 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2024.03.005 DO https://doi.org/10.1016/j.ajhg.2024.03.005 SF ELIB - SuUB Bremen
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