Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.L241P
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PSEN2

NM_000447.3:p.L241P

Associated Papers

Benchmarking AlphaMissense pathogenicity predictions against APP, PSEN1, and PSEN2 variants of unknown significance.

Pillai J et al.

Biochemistry and Biophysics Reports, 2025

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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."