Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
GLUL 中聚集的从头启动丢失变异通过稳定谷氨酰胺合成酶导致发育性和癫痫性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.03.005
Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins, Gemma L Carvill, Stephanie J DeWard, Dorothy K Grange, M J Hajianpour, Benjamin J Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I Esterhu
