Watts JA, Grunseich C, Rodriguez Y, Liu Y, Li D, Burdick JT, Bruzel A, Crouch RJ, Mahley RW, Wilson SH, Cheung VG. A common transcriptional mechanism involving R-loop and RNA abasic site regulates an enhancer RNA of APOE. Nucleic Acids Res. 2022 Nov 28;50(21):12497-12514. PubMed.

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Mutations

  1. APOE c.-558A>T (rs449647)
  2. APOE c.-286T>G (rs405509)