Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.D479G
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TOP3A

NM_004618.5:p.D479G

Associated Papers

Cytosolic TOP3α facilitates mitochondrial DNA sensing by cGAS.

Cai D et al.

Embo Reports, 2025

Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.

Ganesh J et al.

Molecular Genetics and Metabolism, 2025

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.

Primiano G et al.

Neurology. Genetics, 2022

Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.

Jiang W et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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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."