Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V236E
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PSEN1

NM_000021.4:p.V236E

Associated Papers

Interactive Effects of Telomere Length and Genetic Variants on Alzheimer Disease Risk Across Multiple Ancestral Populations.

Khurshid Z et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Isoform- and cell-state-specific APOE homeostasis and function.

Lindner K et al.

Neural Regeneration Research, 2024

Multifaceted roles of APOE in Alzheimer disease.

Jackson RJ et al.

Nature Reviews. Neurology, 2024

Inhibitory Roles of Apolipoprotein E Christchurch Astrocytes in Curbing Tau Propagation Using Human Pluripotent Stem Cell-Derived Models.

Murakami R et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation.

Nelson MR et al.

Nature Neuroscience, 2023

Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study.

Roberts BR et al.

Journal of Alzheimer's Disease Reports, 2023

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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."