THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
THUMPD1 双等位基因变异导致 tRNA 乙酰化丧失和综合征性神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.02.001
Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S Alkuraya, Alberta Leon, Rosa L E van Loon, Alessandra Fer
