An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
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DOI: 10.1002/humu.23976
Abstract: The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in transfer RNAs (tRNAs). Frameshift mutations in TRMT1 have been shown to cause autosomal‐recessive intellectual disability (ID) in the human… read more here.
Keywords: intellectual disability; trmt1; trna modification; missense variant ... See more keywords