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Effect of OCTN2 mutations on mRNA levels Two of the mutations identified caused the premature insertion of a STOP codon either as a result of a single nucleotide change (Y4X) or as a result of a frameshift (dup 254264, 133X)

doi: 10.1038/mp.2014.153 108 Kopschina FeltesP.DoorduinJ.KleinH

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2023;19(S21):e080538