. Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits. Alzheimers Dement. 2023 Jun;19(6):2317-2331. Epub 2022 Dec 4 PubMed.

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Mutations

  1. PSEN1 L232F
  2. APP V717G
  3. PSEN1 A360T