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@article{UBHD-68957716,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Zielonka, Matthias and H{\"u}llen, Andreas and Hoffmann, Georg F. and Juenger, Hendrik and M{\"u}ller, Herbert and Lorenz, Imke and Busse, Birgit and Marschall, Christoph and Schl{\"u}ter, Gregor and Thiel, Christian},
  title={Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature},
  year={2022},
  pages={274-281},
  language={eng},
  issn={1096-7206},
  volume={136},
  number={4},
  note={Gesehen am 28.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.06.005},
}