Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Monies, Dorota ; Vågbø, Cathrine Broberg ; Al-Owain, Mohammad ; Alhomaidi, Suzan ; Alkuraya, Fowzan S.
American journal of human genetics, 2019-06, Vol.104 (6), p.1202-1209 [Periódico revisado por pares]United States: Elsevier Inc
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