Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.L261I
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GRN

NM_002087.4:p.L261I

Associated Papers

Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.

Hosokawa M et al.

Journal of Neuropathology and Experimental Neurology, 2015

Mechanisms of granulin deficiency: lessons from cellular and animal models.

Kleinberger G et al.

Molecular Neurobiology, 2013

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Meeus B et al.

Neurobiology of Aging, 2012

Serum biomarker for progranulin-associated frontotemporal lobar degeneration.

Sleegers K et al.

Annals of Neurology, 2009

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J et al.

Human Mutation, 2007

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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."