Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M298T
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PSEN1

NM_000021.4:p.M298T

Associated Papers

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

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