A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
一种严重的神经发育综合征与南亚创始人变异的UFMylation衔接蛋白CDK5RAP3有关
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-026-03017-2
Yuen, Michaela; Zhang, Katharine; Marchant, Rhett G; Ishimura, Ryosuke; Graham, Mark; Aung-Htut, May; Bryen, Samantha; Rius, Rocio; Marshall, Lee; Aryamanesh, Nader; Dziaduch, Gregory; Joshi, Himanshu; Weisburd, Ben; Wilton, Steve D; Wilson, Meredith; Gear, Russell; Hennington, Lucy; Lau, Stephanie; Doyle, Helen; Krivanek, Michael; Leventer, Richard J; White, Susan M; Sandaradura, Sarah A; Komatsu, Masaaki; Evesson, Frances J; Cooper, Sandra T