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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.S141G

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PSEN1

NM_000021.4:p.S141G

hg38:chr14:73173648 A>G

Associated Papers

A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.

Qiu Q et al.

Journal of Alzheimer's Disease : Jad, 2019

30958370 (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."