Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K380E
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PSEN1

NM_000021.4:p.K380E

Associated Papers

Specific Mutations near the Amyloid Precursor Protein Cleavage Site Increase γ-Secretase Sensitivity and Modulate Amyloid-β Production.

Suzuki R et al.

International Journal of Molecular Sciences, 2023

Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities.

Futai E et al.

The Journal of Biological Chemistry, 2016

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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."