Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D, CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease. Mol Psychiatry. 2016 Jun;21(6):831-6. Epub 2015 Aug 25 PubMed.

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Mutations

  1. SORL1 P55Rfs
  2. SORL1 S124R (C>G)
  3. SORL1 R268Ter
  4. SORL1 R332W
  5. SORL1 c.1211+2T>G
  6. SORL1 C473S
  7. SORL1 G543E
  8. SORL1 H647Tfs
  9. SORL1 R654W
  10. SORL1 R729W
  11. SORL1 D806N
  12. SORL1 T868Kfs
  13. SORL1 W1216Ter
  14. SORL1 D1219G
  15. SORL1 R1243C
  16. SORL1 D1389V
  17. SORL1 P1654L
  18. SORL1 E2055Ter
  19. SORL1 Y141C
  20. SORL1 G511R
  21. SORL1 C1478Ter
  22. SORL1 G1681D
  23. SORL1 W1821Ter
  24. SORL1 D2065V