Browsing Institutt for klinisk og molekylær medisin by Author "Maddirevula, Sateesh"
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Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; Sousa, Mirta; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S. (Peer reviewed; Journal article, 2021)ALKBH8 is a methyltransferase that modifies tRNAs by methylating the anticodon wobble uridine residue. The syndrome of ALKBH8-related intellectual developmental disability (MRT71) has thus far been reported solely in the ...