Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D257N
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PSEN1

NM_000021.4:p.D257N

Associated Papers

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Grigorenko AP et al.

Oncotarget, 2017

Presenilin-1 differentially facilitates endoproteolysis of the beta-amyloid precursor protein and Notch.

Capell A et al.

Nature Cell Biology, 2000

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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."