Thomas Q, Nambot S, Béjot Y, Philippe C, Faivre L, Duffourd Y, Thauvin-Robinet C, Dupont G. A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype. Alzheimer Dis Assoc Disord. 2022 Mar 30; PubMed.

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Mutations

  1. PSEN1 P88R