Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.E703*
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TBK1

NM_013254.4:p.E703*

Associated Papers

Unveiling a rare case: Novel TBK1 variant mimicking as multiple system atrophy-like phenotype.

Madhavi K et al.

Parkinsonism & Related Disorders, 2025

A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report.

Seibert K et al.

Frontiers in Neurology, 2022

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

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.

Lamb R et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."