Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.T96delFs
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TBK1

NM_013254.4:p.T96delFs

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

Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.

Swift IJ et al.

Neurobiology of Aging, 2021

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J et al.

Human Mutation, 2017

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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."