Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G117Splc
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GRN

NM_002087.4:p.G117Splc

Associated Papers

Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.

Krüger J et al.

European Journal of Neurology, 2009

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.

Borroni B et al.

Neurogenetics, 2008

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Beck J et al.

Brain : a Journal of Neurology, 2008

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

van der Zee J et al.

Human Mutation, 2007

PGRN mutations in northern Italy.

Borroni B et al.

Alzheimer Disease and Associated Disorders, 0

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.

Tremolizzo L et al.

Alzheimer Disease and Associated Disorders, 0

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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."