Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.T30_V31insFs
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TARDBP

NM_007375.4:p.T30_V31insFs

Associated Papers

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Van Deerlin VM et al.

Nature Genetics, 2010

20154673 (PubMed )
Supplement: NIHMS172758-supplement-1.pdf

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Yu CE et al.

Archives of Neurology, 2010

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

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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."