An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
TRMT1基因中与智力障碍相关的错义变异会损害tRNA修饰和酶活性的恢复。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23976
Zhang, Kejia; Lentini, Jenna M; Prevost, Christopher T; Hashem, Mais O; Alkuraya, Fowzan S; Fu, Dragony
