Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.I397Splc
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TBK1

NM_013254.4:p.I397Splc

Associated Papers

ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation.

Gondim FAA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

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

Zhao B et al.

European Journal of Neurology, 2023

ALS due to a novel TBK1 mutation in Brazil.

Gondim FAA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."