Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.V411fs
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GRN

NM_002087.4:p.V411fs

Associated Papers

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study.

Schneider R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29434051 (PubMed )
Supplement: jnnp-2017-317492supp001.pdf

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Galimberti D et al.

Neurobiology of Aging, 2018

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Rohrer JD et al.

The Lancet. Neurology, 2015

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

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

Gijselinck I et al.

Human Mutation, 2008

Progranulin and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 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."