Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E69D
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PSEN1

NM_000021.4:p.E69D

Associated Papers

The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.

Zoltowska KM et al.

Alzheimer's Research & Therapy, 2025

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

γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).

Schultz SA et al.

The Lancet. Neurology, 2024

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S et al.

Neurobiology of Disease, 2020

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_

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G et al.

European Journal of Human Genetics : Ejhg, 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."