Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I167_I168ins0
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PSEN1

NM_000021.4:p.I167_I168ins0

Associated Papers

A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.

O'Connor A et al.

Neurobiology of Aging, 2021

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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."