Stoychev KR, Stoimenova-Popova M, Chumpalova P, Ilieva L, Swamad M, Kamburova-Martinova Z. A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD. Front Psychiatry. 2019;10:857. Epub 2019 Dec 11 PubMed.

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Mutations

  1. PSEN1 L424V