Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet. 2005 Jul;77(1):78-88. Epub 2005 May 25 PubMed.

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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-773 [LINC00158-CYYR1]
  19. APP Duplication EXT-144 [BTG3-EIF4A1P]
  20. APP Duplication EXT-187 [POTED-ADAMTS5]
  21. APP Duplication ALZ-254 [POTED-ADAMTS5]
  22. APP Duplication EXT-006 [HSPA13-GRIK1]
  23. APP Duplication EXT-019 [LINC00158-USP16]
  24. APP Duplication EXT-1230 [BTG3- ADAMTS5]
  25. APP Duplication EXT-1516 [APP-ADAMTS1]
  26. APP Duplication EXT 1853 [MRPL39-CYYR1]
  27. APP Duplication EXT-1864 [TUBAP-ADAMTS1]
  28. APP Duplication EXT 2066 [MRPL39-APP]
  29. APP Duplication PED 3281 [LINC00158-ADAMTS5]
  30. APP Duplication PED 2945 [APP-CYYR1]