Vance JM, Farrer LA, Huang Y, Cruchaga C, Hyman BT, Pericak-Vance MA, Goate AM, Greicius MD, Griswold AJ, Haines JL, Tcw J, Schellenberg GD, Tsai LH, Herz J, Holtzman DM. Report of the APOE4 National Institute on Aging/Alzheimer Disease Sequencing Project Consortium Working Group: Reducing APOE4 in Carriers is a Therapeutic Goal for Alzheimer's Disease. Ann Neurol. 2024 Apr;95(4):625-634. Epub 2024 Jan 5 PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. APOE W5Ter
  3. APOE E27fs
  4. APOE G49fs
  5. APOE E98fs
  6. APOE E114fs
  7. APOE C130R (ApoE4)
  8. APOE R154S (Christchurch)
  9. APOE R154fs
  10. APOE A227_E230del
  11. APOE W228Ter
  12. APOE V254E
  13. APOE R269G
  14. APOE c.-286T>G (rs405509)
  15. APOE c.237-1A>G
  16. APOE Region
  17. APOE L8Ter
  18. APOE g.45408560_45410359del
  19. APOE Q39Ter
  20. APOE E84Ter