TRMT1

Publications

Zhang K et al. An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity. Hum Mutat. 2020;41(3):600–607.  PMID: 31898845.

Blaesius K et al. Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. Am J Med Genet A. 2018;176(11):2517–2521.  PMID: 30289604.