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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN2

Variant:p.P60A

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PSEN2

NM_000447.3:p.P60A

hg38:chr1:226883741 C>G

Associated Papers

PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis.

Fedeli C et al.

Autophagy, 2019

30892128 (PubMed )

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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."