Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.L143P
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PSEN2

NM_000447.3:p.L143P

Associated Papers

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Perrone F et al.

Alzheimer's Research & Therapy, 2020

32917274 (PubMed )
Supplement: 13195_2020_676_MOESM1_ESM.docx

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Lanoiselée HM et al.

Plos Medicine, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."