Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders
与神经发育障碍相关的新生GABBR1和GABBR2变异的功能特征
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-026-00558-z
Stawarski, Michal; Bielopolski, Noa; Roitman, Ilana; Fridman, Karen; Wald-Altman, Shane; Eitel, Megan; Hui, Benedict; Vulto-van Silfhout, Anneke; Stegmann, Alexander P A; Chirita-Emandi, Adela; Eason, Jacqueline; Bradshaw, Kirsty; Darnell, Lewis; Kostrzewa, Grażyna; Ploski, Rafal; Meurs, Romane; Batté, Amandine; Antonarakis, Stylianos E; Gassmann, Martin; Bettler, Bernhard