Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.S315L
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TBK1

NM_013254.4:p.S315L

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

Verheijen J et al.

Neurobiology of Aging, 2018

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."