Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.E695fs
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TBK1

NM_013254.4:p.E695fs

Associated Papers

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Cogan G et al.

Brain : a Journal of Neurology, 2025

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Megarbane A et al.

Journal of Neuromuscular Diseases, 2022

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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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."