Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.V5L
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GRN

NM_002087.4:p.V5L

Associated Papers

Translational Control of Secretory Proteins in Health and Disease.

Karamyshev AL et al.

International Journal of Molecular Sciences, 2020

Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability.

Pinarbasi ES et al.

Cell Reports, 2018

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.

van Swieten JC et al.

The Lancet. Neurology, 2008

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

López de Munain A et al.

Biological Psychiatry, 2008

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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."