. Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Front Aging Neurosci. 2021;13:745407. Epub 2021 Oct 14 PubMed.

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Mutations

  1. SORL1 V361L
  2. PSEN2 G34S
  3. PSEN1 Y115C
  4. PSEN2 I146T
  5. SORL1 N99S