Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, Mackowiak MA, Sillaire AR, Vercelletto M, Dionet E, Felician O, Rod-Olivieri P, Thomas-Antérion C, Godeneche G, Sauvée M, Cartz-Piver L, Le Ber I, Chauvire V, Jonveaux T, Balageas AC, Laquerriere A, Duyckaerts C, Vital A, de Paula AM, Meyronet D, Guyant-Marechal L, Hannequin D, Tournier-Lasserve E, Campion D, CNR-MAJ collaborators, Nicolas G, Wallon D. Phenotype and imaging features associated with APP duplications. Alzheimers Res Ther. 2023 May 11;15(1):93. PubMed.

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Mutations

  1. APP Duplication EXT-006 [HSPA13-GRIK1]
  2. APP Duplication EXT-019 [LINC00158-USP16]
  3. APP Duplication EXT-1230 [BTG3- ADAMTS5]
  4. APP Duplication EXT-1516 [APP-ADAMTS1]
  5. APP Duplication EXT 1853 [MRPL39-CYYR1]
  6. APP Duplication EXT-1864 [TUBAP-ADAMTS1]
  7. APP Duplication EXT 2066 [MRPL39-APP]
  8. APP Duplication ALZ-478 [LINC00158-EIF4A1P]
  9. APP Duplication EXT-262 [JAM2-APP]
  10. APP Duplication F028 [MRPL39-APP]
  11. APP Duplication F037 [LINC00158-APP]
  12. APP Duplication EXT-298 [GABPA-CYYR1]
  13. APP Duplication EXT-1252 [LINC00158-ADAMTS1]
  14. APP Duplication EXT-857 [MRPL39-ADAMTS5]
  15. APP Duplication EXT-054 [USP25-ADAMTS1]
  16. APP Duplication EXT-279 [GABPA-ADAMTS1]
  17. APP Duplication EXT-1093 [AK124194-CYYR1]
  18. APP Duplication EXT-814 [NCAM2-ADAMTS5]
  19. APP Duplication F229 [NCAM2-EIF4A1P]
  20. APP Duplication EXT-145 [NCAM2-EIF4A1P]
  21. APP Duplication EXT-144 [BTG3-EIF4A1P]
  22. APP Duplication EXT-187 [POTED-ADAMTS5]
  23. APP Duplication ALZ-254 [POTED-ADAMTS5]