Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.P193L
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TOP1MT

NM_052963.3:p.P193L

Associated Papers

Identification of Causal Effects of Mitochondrial Dysfunction on the Risk of Multiple Autoimmune Disorders: Multi-Omics Mendelian Randomization and Colocalization Analyses.

Luo J et al.

International Journal of Rheumatic Diseases, 2025

Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.

Al Khatib I et al.

Human Molecular Genetics, 2023

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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."