Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, DeJager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate AM, The Alzheimer's Disease Sequencing Project, DeStefano AL, Peloso GM. Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). 2023 Oct 25 10.1101/2023.10.24.23297227 (version 1) medRxiv.

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Mutations

  1. PSEN1 R220Q
  2. PSEN1 I427V
  3. PSEN2 I100I
  4. APP A713T
  5. PSEN1 A79V
  6. PSEN1 V94M
  7. PSEN1 G206A
  8. PSEN1 H214Y
  9. PSEN1 R269H
  10. PSEN2 A85V
  11. PSEN2 L238F
  12. PSEN1 I437V
  13. PSEN2 L238P
  14. PSEN2 T18M
  15. PSEN2 R435Q