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26. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Edvardson S; Prunetti L; Arraf A; Haas D; Bacusmo JM; Hu JF; Ta-Shma A; Dedon PC; de Crécy-Lagard V; Elpeleg O Eur J Hum Genet; 2017 May; 25(5):545-551. PubMed ID: 28272532 [TBL] [Abstract][Full Text] [Related]
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