Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.E653fs
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TBK1

NM_013254.4:p.E653fs

Associated Papers

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.

Xu T et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Genetics of frontotemporal dementia in China.

Jiang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort.

Jiao B et al.

Translational Neurodegeneration, 2018

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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."