Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, Huang AY, Lawrence L, Lowe JK, Lewis CM, Payan CA, Lieb W, Franke A, Deloukas P, Amouyel P, Tzourio C, Dartigues JF, NNIPPS and BBBIPPS Study Groups, Ludolph A, Bensimon G, Leigh PN, Bronstein JM, Coppola G, Geschwind DH, Al-Chalabi A. Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. Mov Disord. 2019 Jul;34(7):1049-1059. Epub 2019 May 6 PubMed.

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Mutations

  1. MAPT c.-17-19976G>A (rs242557)