. Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function. J Alzheimers Dis Parkinsonism. 2017 Aug;7(4) Epub 2017 Jul 31 PubMed.

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Mutations

  1. SORL1 T588I
  2. SORL1 T2134M