Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
mRNA 脱帽缺陷的双等位基因 NUDT2 变体可导致神经发育疾病
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awad434
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Wal