Varaico: Literature-Extracted Genetic Variants

Gene:PUM3
Variant:p.F238L
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PUM3

NM_014878.5:p.F238L

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

Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Weggen S et al.

Alzheimer's Research & Therapy, 2012

Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.

Kowalska A

Folia Neuropathologica, 2003

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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."