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@article{UBHD-68216478, author={Colin, Estelle and Assmann, Birgit and Christ, Stine and Hoffmann, Georg F.}, title={Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy}, year={2016}, pages={695-703}, language={eng}, issn={1537-6605}, volume={99}, number={3}, note={Gesehen am 02.02.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2016.06.030}, }