Varaico: Literature-Extracted Genetic Variants

Gene:APEH
Variant:p.R128R
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APEH

NM_001640.4:p.R128R

Associated Papers

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

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.

Chávez-Gutiérrez L et al.

The Embo Journal, 2012

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."