Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S438A
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PSEN1

NM_000021.4:p.S438A

Associated Papers

Abstracts of the IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN), March 13-15, 2014, Florence, Italy.

Bonavita V et al.

Journal of Alzheimer's Disease : Jad, 2014

Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

Futai E et al.

The Journal of Biological Chemistry, 2009

19254953 (PubMed )
Supplement: M807653200_2.pdf
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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."