Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.E498*
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GRN

NM_002087.4:p.E498*

Associated Papers

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Cogan G et al.

Brain : a Journal of Neurology, 2025

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.

Carneiro F et al.

Parkinsonism & Related Disorders, 2020

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S et al.

Brain : a Journal of Neurology, 2016

26674655 (PubMed )
Supplement: 193de75575a61a3ba6dfc37022be628d_brain-2015-01381-File007.pdf

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Van Langenhove T et al.

Jama Neurology, 2013

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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."