Xia Y, Nasif L, Giasson BI. Pathogenic MAPT mutations Q336H and Q336R have isoform-dependent differences in aggregation propensity and microtubule dysfunction. J Neurochem. 2021 Jul;158(2):455-466. Epub 2021 Apr 12 PubMed.

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Mutations

  1. MAPT Q336R
  2. MAPT Q336H (G>C)
  3. MAPT Q336H (G>T)