Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1N
Variant:p.A85V
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PCSK1N

NM_013271.5:p.A85V

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

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

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Jayadev S et al.

Brain : a Journal of Neurology, 2010

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