Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y256F
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PSEN1

NM_000021.4:p.Y256F

Associated Papers

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

Kim M et al.

International Journal of Molecular Sciences, 2021

Conserved residues within the putative active site of gamma-secretase differentially influence enzyme activity and inhibitor binding.

Wrigley JD et al.

Journal of Neurochemistry, 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."