Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree
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DOI: 10.1002/mgg3.1518
Abstract: The enzyme NOP2/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5‐methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and… read more here.
Keywords: intellectual disability; chinese pedigree; delineation autosomal; nsun2 gene ... See more keywords