Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.L232F
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PSEN2

NM_000447.3:p.L232F

Associated Papers

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.

van der Ende EL et al.

Brain : a Journal of Neurology, 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."