Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.E51V
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PSEN2

NM_000447.3:p.E51V

Associated Papers

The Enigma of Tau Protein Aggregation: Mechanistic Insights and Future Challenges.

Zheng H et al.

International Journal of Molecular Sciences, 2024

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.

Goldman JS et al.

Molecular Diagnosis & Therapy, 2018

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Benitez BA et al.

Plos Genetics, 2013

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Jin SC et al.

Alzheimer's Research & Therapy, 2012

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C et al.

Plos One, 2012

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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."