Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L173S
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PSEN1

NM_000021.4:p.L173S

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

40149496 (PubMed )
Supplement: genes-16-00345-s001.zip › genes-3411048-supplementary.pdf

PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.

Jia L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

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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."