Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M16I
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PSEN1

NM_000021.4:p.M16I

Associated Papers

The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.

Willumsen N et al.

Brain Communications, 2023

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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."