Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.C65Y
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PSEN2

NM_000447.3:p.C65Y

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

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018

30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S6_APPPS1PS2_NS_1_

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Bolli N et al.

Nature Communications, 2014

24429703 (PubMed )
Supplement: ncomms3997-s2.xlsx › Variants
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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."