Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
作者信息
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
出版信息
Am J Hum Genet. 2021 Nov 4;108(11):2206. doi: 10.1016/j.ajhg.2021.09.018.
Abstract
摘要
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