Liu G, Sun JY, Xu M, Yang XY, Sun BL. SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk. J Alzheimers Dis. 2017;58(4):1121-1128. PubMed.

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Mutations

  1. SORL1 c.3049+1921C>A
  2. SORL1 c.3460+202C>T
  3. SORL1 c.3461-979C>T
  4. SORL1 c.3461-802T>C
  5. SORL1 c.3581-2615G>A
  6. SORL1 c.3581-2354T>G
  7. SORL1 c.4213+66A>G
  8. SORL1 c.4519+2811G>A
  9. SORL1 c.4519+3500C>T
  10. SORL1 c.4519+3954A>G
  11. SORL1 c.4519+4139C>G
  12. SORL1 c.4519+4165C>T
  13. SORL1 c.4520-877T>C
  14. SORL1 c.5604+1843A>G
  15. SORL1 c.5724+203G>A
  16. SORL1 c.5890-515C>T
  17. SORL1 H269H (SNP 7)
  18. SORL1 A528T (SNP 13)
  19. SORL1 T833T (SNP 16)
  20. SORL1 S1187S (SNP 19)
  21. SORL1 N1246N (SNP 22)
  22. SORL1 N1392N
  23. SORL1 A1584A (SNP 23)
  24. SORL1 K1895K