Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D, CNRMAJ collaborators, Boland A, Deleuze JF, Olaso R, ADES consortium, Alarcon F, Campion D, Nuel G, Nicolas G. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes. Genome Med. 2022 Jun 28;14(1):69. PubMed. Correction.

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Mutations

  1. SORL1 W804Ter
  2. SORL1 Q823Ter
  3. SORL1 W932Ter
  4. SORL1 c.4213+1G>A
  5. SORL1 R1799Ter
  6. SORL1 Y2093Ter
  7. APOE C130R (ApoE4)
  8. SORL1 R268Ter
  9. SORL1 R332W
  10. SORL1 c.1211+2T>G
  11. SORL1 G511R
  12. SORL1 H647Tfs
  13. SORL1 R654W
  14. SORL1 R866Ter
  15. SORL1 T868Kfs
  16. SORL1 R1207Ter
  17. SORL1 W1216Ter
  18. SORL1 c.3947-3_3947-2insG
  19. SORL1 C1478Ter
  20. SORL1 c.4519+1G>A
  21. SORL1 R1655Ter
  22. SORL1 W1821Ter
  23. SORL1 E2055Ter