Varaico: Literature-Extracted Genetic Variants

Gene:PUM3
Variant:p.L282R
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PUM3

NM_014878.5:p.L282R

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

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

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."