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% Source: https://alzhub.org/research?atag=pathogenic
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@article{bialopiotrowicz2012-22810102,
  author  = {Bialopiotrowicz, E. and Szybinska, A. and Kuzniewska, B. and Buizza, L. and Uberti, D. and Kuznicki, J. and Wojda, U.},
  title   = {{Highly pathogenic Alzheimer's disease presenilin 1 P117R mutation causes a specific increase in p53 and p21 protein levels and cell cycle dysregulation in human lymphocytes}},
  journal = {Journal of Alzheimer's disease : JAD},
  year    = {2012},
  doi     = {10.3233/jad-2012-121129},
  pmid    = {22810102},
  url     = {https://doi.org/10.3233/jad-2012-121129}
}

@article{dowjat2004-15004326,
  author  = {Dowjat, W. K. and Kuchna, I. and Wisniewski, T. and Wegiel, J.},
  title   = {{A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations}},
  journal = {Journal of Alzheimer's disease : JAD},
  year    = {2004},
  doi     = {10.3233/jad-2004-6105},
  pmid    = {15004326},
  url     = {https://doi.org/10.3233/jad-2004-6105}
}