@misc{indiciae9c449afb73e0,
  title = {Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases},
  author = {Perenthaler, E. and Nikoncuk, A. and Yousefi, S. and Berdowski, W. M. and Capo, I. and van der Linde, H. C. and van den Berg, P. and Jacobs, E. H. and Putar, D. and Ghazvini, M. and Aronica, E. and van IJcken, W. F. J. and de Valk, W. G. and Medici-van den Herik, E. and van Slegtenhorst, M. and Brick, L. and Kozenko, M. and Kohler, J. F. and Bernstein, J. A. and Monaghan, K. G. and Begtrup, A. and Torene, R. and Al Futaisi, A. and Al Murshedi, F. and Mani, R. and Al Azri, F. and Kamsteeg, E.-J. and Mojarrad, M. and Eslahi, A. and Khazaei, Z. and Massinaei Darmiyan, F. and Doosti, M. and Ghayoor Karimiani, E. and Vandrovcova, J. and Zafar, F. and Rana, N. and Kandaswamy, K. K. and Hertecant, J. and Bauer,},
  year = {2019},
  doi = {10.1101/799841},
  url = {https://www.biorxiv.org/content/10.1101/799841v1},
  note = {Source identifier: 10.1101/799841}
}