. Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. Neurobiol Aging. 2020 Sep;93:e1-e9. Epub 2020 Feb 18 PubMed.

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Mutations

  1. PSEN1 G378R
  2. PSEN2 L79P
  3. PSEN2 C65Y
  4. PSEN2 T388M
  5. PSEN2 M174V