Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A275V
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PSEN1

NM_000021.4:p.A275V

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

Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Takada LT et al.

Alzheimer's Research & Therapy, 2022

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

Kim M et al.

International Journal of Molecular Sciences, 2021

Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.

Kaur G et al.

Journal of Alzheimer's Disease : Jad, 2020

32333592 (PubMed )
Supplement: sj-xlsx-1-alz-10.3233_jad-200052.xlsx › Supplementary_Table_3

Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.

Tang N et al.

Journal of Alzheimer's Disease : Jad, 2018

30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

Luedecke D et al.

Neuroscience Letters, 2014

Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.

Joshi P et al.

Alzheimer Disease and Associated Disorders, 0

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