Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.A705fs
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TBK1

NM_013254.4:p.A705fs

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

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

Zhao B et al.

European Journal of Neurology, 2023

Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration.

Woollacott IOC et al.

Journal of Neuroinflammation, 2020

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Hirsch-Reinshagen V et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Black HA et al.

Neurobiology of Aging, 2017

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.

Koriath CA et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 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."