Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S230C
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PSEN1

NM_000021.4:p.S230C

Associated Papers

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

Sato C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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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."