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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.V444A

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PSEN1

NM_000021.4:p.V444A

hg38:chr14:73219216 T>C

Associated Papers

Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein.

Moliaka YK et al.

Febs Letters, 2004

14741365 (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."