Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.V279Splc
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GRN

NM_002087.4:p.V279Splc

Associated Papers

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.

Snowden JS et al.

Brain : a Journal of Neurology, 2006

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

Masellis M et al.

Brain : a Journal of Neurology, 2006

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

Mackenzie IR et al.

Brain : a Journal of Neurology, 2006

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M et al.

Nature, 2006

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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."