Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.Q629fs
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TBK1

NM_013254.4:p.Q629fs

Associated Papers

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Pottier C et al.

Nature Communications, 2025

40280976 (PubMed )
Supplement: 41467_2025_59216_MOESM3_ESM.xlsx › SD26

Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.

Swift IJ et al.

Neurobiology of Aging, 2021

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Pottier C et al.

Acta Neuropathologica, 2019

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M et al.

Neurobiology of Aging, 2018

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

Human TBK1: A Gatekeeper of Neuroinflammation.

Ahmad L et al.

Trends in Molecular Medicine, 2016

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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."