Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
GRIA2 p.Gly792 和 GRIA3 p.Gly803 位点旁系同源功能获得性变异的临床和神经发育特征
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14770
Sjøstrøm, Emilie; Studniarczyk, Dorota; Dou, Xinyao; Dahl, Rebekka S; Cruz, Vincent; Wang, Heng; Mercier, Sandra; Deb, Wallid; Besnard, Thomas; Friedman, Jennifer; Essid, Miriam; Karoui, Sana; Jemaa, Lamia Ben; Benyounes, Thouraya; Lesca, Gaetan; Tonduti, Davide; Iascone, Maria; Orcesi, Simona; Fradin, Melanie; Dubourg, Christèle; Napuri, Silvia; Cull-Candy, Stuart G; Coombs, Ian D; Farrant, Mark; Bayat, Allan