The gain-of-function UBE3A(Q588E) variant causes Angelman-like neurodevelopmental phenotypes in mice.
UBE3A(Q588E) 功能获得性变异会导致小鼠出现类似安格曼综合征的神经发育表型
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-92511-w
Weston Kellan P, Gunelson Anna M, Maloney Susan E, Ge Xia, Stelzer Jalin A, Kim Kwang-Soo, Collier Shylyn, Mindt Marissa M, Agajanian Megan J, Major Michael B, Goldfarb Dennis, Noguchi Kevin K, Yi Jason J
