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An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
Zhang, Kejia, Lentini, Jenna M, Prevost, Christopher T, Hashem, Mais O, Alkuraya, Fowzan S, Fu, DragonyJournal:
Human Mutation
DOI:
10.1002/humu.23976
Date:
January, 2020
File:
PDF, 766 KB
2020