Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y288F
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PSEN1

NM_000021.4:p.Y288F

Associated Papers

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.

Shinohara M et al.

Brain : a Journal of Neurology, 2014

Functional domains in presenilin 1: the Tyr-288 residue controls gamma-secretase activity and endoproteolysis.

Laudon H et al.

The Journal of Biological Chemistry, 2004

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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."