Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.H46R
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PSEN1

NM_000021.4:p.H46R

Associated Papers

Are Astrocytes the Predominant Cell Type for Activation of Nrf2 in Aging and Neurodegeneration?

Liddell JR

Antioxidants (basel, Switzerland), 2017

A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.

Aoki M et al.

Neurology, 1997

Clinical and molecular analysis of neurodegenerative diseases.

Abe K

The Tohoku Journal of Experimental Medicine, 1997

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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."