Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F175del1
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PSEN1

NM_000021.4:p.F175del1

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

PS1/gamma-secretase acts as rogue chaperone of glutamate transporter EAAT2/GLT-1 in Alzheimer's disease.

Perrin F et al.

Research Square, 2023

Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.

Avramouli A et al.

Advances in Experimental Medicine and Biology, 2023

Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects.

Vöglein J et al.

Neurobiology of Aging, 2019

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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."