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. PSEN2 R62C
  3. PSEN1 N32N
  4. PSEN1 R35Q
  5. PSEN1 M146V
  6. PSEN1 F175S
  7. PSEN1 V191A
  8. PSEN1 E318G
  9. PSEN1 R358Q
  10. PSEN1 I439V
  11. PSEN2 R62H
  12. PSEN2 S130L
  13. PSEN2 A252T
  14. PSEN2 V393M
  15. PSEN2 D439A
  16. PSEN1 D40del (delGAC)
  17. PSEN1 G378fs
  18. PSEN1 H163P
  19. APP Y538H
  20. PSEN2 I235F
  21. PSEN1 A396T
  22. PSEN1 R108Q
  23. PSEN1 R352C
  24. PSEN1 T99A
  25. PSEN1 H131R
  26. PSEN2 L238F
  27. PSEN1 E69D
  28. PSEN1 D40del (delACG)
  29. PSEN2 P348L
  30. PSEN1 M84V
  31. PSEN1 Q127_R128delinsG
  32. PSEN2 R284G