Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease. Neurol Genet. 2022 Feb;8(1):e647. Epub 2021 Dec 7 PubMed.

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Mutations

  1. PSEN1 F386L