Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.R103Q
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TOP3A

NM_004618.5:p.R103Q

Associated Papers

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

Erdinc D et al.

Embo Molecular Medicine, 2023

Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.

Sun J et al.

Nature Communications, 2019

31320627 (PubMed )
Supplement: 41467_2019_10987_MOESM6_ESM.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
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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."