Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.V338L
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TOP1MT

NM_052963.3:p.V338L

Associated Papers

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

Al Khatib I et al.

Human Molecular Genetics, 2023

Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.

Al Khatib I et al.

The Journal of Biological Chemistry, 2022

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants.

Zhang H et al.

Scientific Reports, 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."