Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.A176V
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TOP3A

NM_004618.5:p.A176V

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

Functional analysis of pathological mutations in DNA topoisomerase 3A.

Wang Y et al.

Cell Reports, 2025

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Erdinc D et al.

Embo Molecular Medicine, 2023

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA et al.

American Journal of Human Genetics, 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."