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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.L268V

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PSEN1

NM_000021.4:p.L268V

hg38:chr14:73198063 C>G

Associated Papers

Altered metabolic function induced by Aβ-oligomers and PSEN1 mutations in iPSC-derived astrocytes.

Elsworthy RJ et al.

Journal of Neurochemistry, 2025

39696767 (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."