Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G266C
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PSEN1

NM_000021.4:p.G266C

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

40281586 (PubMed )
Supplement: 13024_2025_832_MOESM1_ESM.docx

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Petit D et al.

Molecular Psychiatry, 2022

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