Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.K694del1
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TBK1

NM_013254.4:p.K694del1

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 systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.

Zhao B et al.

European Journal of Neurology, 2023

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

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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."