Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.M234Splc
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TBK1

NM_013254.4:p.M234Splc

Associated Papers

The CCL2-CCR2 axis drives neuromuscular denervation in amyotrophic lateral sclerosis.

Nógrádi B et al.

Nature Communications, 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_4.xlsx › ClinVar_filtered_variants

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study.

Olsen CG et al.

Neuroepidemiology, 2022

First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation.

Santos-García D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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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."