Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.09.018
Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T