Wang H, Dombroski BA, Cheng P-L, Tucci A, Si Y-q, Farrell JJ, Tzeng J-Y, Leung YY, Malamon JS, Wang L-S, Vardarajan BN, Farrer LA, Schellenberg GD, Lee W-P. Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects. 2023 Sep 13 10.1101/2023.09.13.23295505 (version 1) medRxiv.

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Mutations

  1. APP Duplication 1104 [APP-APP]
  2. APP Duplication EXT-262 [JAM2-APP]
  3. APP Duplication [JAM2-APP]
  4. APP Duplication F028 [MRPL39-APP]
  5. APP Duplication [APP-CYYR1]
  6. APP Duplication F037 [LINC00158-APP]
  7. APP Duplication EXT-298 [GABPA-CYYR1]
  8. APP Duplication EXT-1252 [LINC00158-ADAMTS1]
  9. APP Duplication EXT-857 [MRPL39-ADAMTS5]
  10. APP Duplication EXT-054 [USP25-ADAMTS1]
  11. APP Duplication EXT-279 [GABPA-ADAMTS1]
  12. APP Duplication F009 [LINC00158-EIF4A1P]
  13. APP Duplication EXT-1093 [AK124194-CYYR1]
  14. APP Duplication F019 [LINC00158-BACH1]
  15. APP Duplication EXT-814 [NCAM2-ADAMTS5]
  16. APP Duplication F229 [NCAM2-EIF4A1P]
  17. APP Duplication EXT-145 [NCAM2-EIF4A1P]
  18. APP Duplication EXT-144 [BTG3-EIF4A1P]
  19. APP Duplication EXT-187 [POTED-ADAMTS5]
  20. APP Duplication ALZ-254 [POTED-ADAMTS5]
  21. APP Duplication EXT-006 [HSPA13-GRIK1]
  22. APP Duplication EXT-019 [LINC00158-USP16]
  23. APP Duplication EXT-1230 [BTG3- ADAMTS5]
  24. APP Duplication EXT-1516 [APP-ADAMTS1]
  25. APP Duplication EXT 1853 [MRPL39-CYYR1]
  26. APP Duplication EXT-1864 [TUBAP-ADAMTS1]
  27. APP Duplication EXT 2066 [MRPL39-APP]
  28. APP Duplication PED 3281 [LINC00158-ADAMTS5]