Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.M100V
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TOP3A

NM_004618.5:p.M100V

Associated Papers

Cytosolic TOP3α facilitates mitochondrial DNA sensing by cGAS.

Cai D et al.

Embo Reports, 2025

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Erdinc D et al.

Embo Molecular Medicine, 2023

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3F

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

Primiano G et al.

Neurology. Genetics, 2022

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA et al.

American Journal of Human Genetics, 2018

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

Nicholls TJ et al.

Molecular Cell, 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."