Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.L62P
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TBK1

NM_013254.4:p.L62P

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

Genetics of frontotemporal dementia in China.

Jiang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.

McCombe PA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

30196251 (PubMed )
Supplement: jnnp-2018-318823supp001.pdf

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: a new player in ALS linking autophagy and neuroinflammation.

Oakes JA et al.

Molecular Brain, 2017

28148298 (PubMed )
Supplement: 13041_2017_287_MOESM1_ESM.pdf

Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.

Shu S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 0

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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."