Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L420P
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PSEN1

NM_000021.4:p.L420P

Associated Papers

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Shrimpton AE et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007

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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."