Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q406*
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GRN

NM_002087.4:p.Q406*

Associated Papers

Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination.

Zhang T et al.

Acta Neuropathologica, 2023

Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Davis SE et al.

Acta Neuropathologica Communications, 2023

Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.

Marsan E et al.

The Journal of Clinical Investigation, 2023

36602862 (PubMed )
Supplement: jci-133-164919-s062.pdf

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Steele NZ et al.

Advances in Genomics and Genetics, 2018

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

Lindquist SG et al.

European 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."