Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J, International Parkinson’s Disease Genomics Consortium (IPDGC), Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nat Commun. 2021 Apr 6;12(1):2076. PubMed.

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Mutations

  1. APOE c.236+50T>C (rs12982192)