Varaico: Literature-Extracted Genetic Variants

Gene:PUM3
Variant:p.E273A
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PUM3

NM_014878.5:p.E273A

Associated Papers

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Nelson O et al.

Journal of Alzheimer's Disease : Jad, 2010

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

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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."