Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I114F
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PSEN1

NM_000021.4:p.I114F

Associated Papers

Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

Petit D et al.

The Embo Journal, 2022

36121025 (PubMed )
Supplement: EMBJ-41-e111084-s001.pdf

A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.

Luo R et al.

Signal Transduction and Targeted Therapy, 2021

34465723 (PubMed )
Supplement: 41392_2021_748_MOESM1_ESM.docx
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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."