Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F237C
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PSEN1

NM_000021.4:p.F237C

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 › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.

Marsh JA et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

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

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

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

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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."