Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
单倍体不足是SLC6A1变异导致神经发育后果的根本原因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.04.021
Silva, Dina Buitrago; Trinidad, Marena; Ljungdahl, Alicia; Revalde, Jezrael L; Berguig, Geoffrey Y; Wallace, William; Patrick, Cory S; Bomba, Lorenzo; Arkin, Michelle; Dong, Shan; Estrada, Karol; Hutchinson, Keino; LeBowitz, Jonathan H; Schlessinger, Avner; Johannesen, Katrine M; Møller, Rikke S; Giacomini, Kathleen M; Froelich, Steven; Sanders, Stephan J; Wuster, Arthur