Van Giau V, Pyun JM, Suh J, Bagyinszky E, An SS, Kim SY. A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease. BMC Neurol. 2019 Aug 7;19(1):188. PubMed.

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Mutations

  1. PSEN1 W165C (G>C)
  2. PSEN1 W165C (G>T)