Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.V279Splc
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GRN

NM_002087.4:p.V279Splc

Associated Papers

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_003

Screening for progranulin mutations by serum protein dosage in common neurodegenerative disorders.

Rodríguez-Rodríguez E et al.

Parkinsonism & Related Disorders, 2013

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

Krüger J et al.

European Journal of Neurology, 2009

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Rademakers R et al.

Human Molecular Genetics, 2008

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

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

Borroni B et al.

Neurogenetics, 2008

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."