Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R229S
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TBK1

NM_013254.4:p.R229S

Associated Papers

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

Zhao B et al.

European Journal of Neurology, 2023

Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.

Khatoon F et al.

3 Biotech, 2022

Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.

Yu H et al.

Molecular Genetics & Genomic Medicine, 2019

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J et al.

Human Mutation, 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."