Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.N63S
Back to variants list

TBK1

NM_013254.4:p.N63S

Associated Papers

Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

Ng ASL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Zhao B et al.

European Journal of Neurology, 2023

Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.

Yousefian-Jazi A et al.

Cells, 2020

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

de Majo M et al.

Neurobiology of Aging, 2018

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."