Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. Neurobiol Dis. 2020 Jun;139:104817. Epub 2020 Feb 19 PubMed.

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Mutations

  1. APP A713V
  2. PSEN1 M146V
  3. PSEN1 V191A
  4. PSEN1 E318G
  5. PSEN2 A252T
  6. PSEN1 G378fs
  7. APP Y538H
  8. PSEN1 T99A
  9. PSEN1 H131R
  10. PSEN1 M84V
  11. PSEN1 Q127_R128del(CAGA);InsG(G)