Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.N279D
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PSEN1

NM_000021.4:p.N279D

Associated Papers

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.

Jih KY et al.

Alzheimer's Research & Therapy, 2025

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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."