Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V391F
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PSEN1

NM_000021.4:p.V391F

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

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Nicolas G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Kim M et al.

International Journal of Molecular Sciences, 2021

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

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

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Wallon D et al.

Journal of Alzheimer's Disease : Jad, 2012

Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.

Larner AJ et al.

Journal of Alzheimer's Disease : Jad, 2009

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Raux G et al.

Journal of Medical Genetics, 2005

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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."