Liu L, Schultz S, Saba A, Yang H-S, Li A, Selkoe D, Chhatwal J. The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1. 2024 Jun 28 10.1101/2024.06.22.600217 (version 1) bioRxiv.

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Mutations

  1. PSEN2 A85V
  2. PSEN2 T122R
  3. PSEN2 V148I
  4. PSEN2 N141Y
  5. PSEN2 E126K
  6. PSEN2 P123L
  7. PSEN1 N135Y
  8. PSEN1 V142I

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