Scarioni M, Arighi A, Fenoglio C, Sorrentino F, Serpente M, Rotondo E, Mercurio M, Marotta G, Dijkstra AA, Pijnenburg YA, Scarpini E, Galimberti D. Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation. Eur J Neurol. 2020 Dec;27(12):2630-2634. Epub 2020 Oct 12 PubMed.

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Mutations

  1. PSEN1 R377W