Tábuas-Pereira M, Guerreiro R, Kun-Rodrigues C, Almeida MR, Brás J, Santana I. Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation. Neurogenetics. 2022 Oct;23(4):279-283. Epub 2022 Sep 17 PubMed.

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Mutations

  1. PSEN1 I408T