Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.W2S
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GRN

NM_002087.4:p.W2S

Associated Papers

Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.

Gillett DA et al.

Journal of Neuroinflammation, 2023

Frontotemporal lobar degeneration: current knowledge and future challenges.

Cerami C et al.

Journal of Neurology, 2012

The genetics and neuropathology of frontotemporal lobar degeneration.

Sieben A et al.

Acta Neuropathologica, 2012

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

Gijselinck I et al.

Human Mutation, 2008

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Le Ber I et al.

Human Mutation, 2007

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts 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."