Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
复制标题
RPH3A 的错义变异会导致兴奋性突触功能缺陷，并与临床上可变的神经发育障碍相关。
DOI：
10.1016/j.gim.2023.100922
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Kelley,WhitleyV
中科院分区：
文献类型：
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作者：
Pavinato,Lisa;Stanic,Jennifer;Barzasi,Marta;Gurgone,Antonia;Chiantia,Giuseppe;Cipriani,Valentina;Eberini,Ivano;Palazzolo,Luca;DiLuca,Monica;Costa,Alex;Marcantoni,Andrea;Biamino,Elisa;Spada,Marco;Hiatt,SusanM;Kelley,WhitleyV
