Varaico: Literature-Extracted Genetic Variants

Gene:TOP2B
Variant:p.R553H
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TOP2B

NM_001330700.2:p.R553H

Associated Papers

DNA Topoisomerase II Mutations in Cancer: Structural Impact and Drug Response in High-grade Serous Ovarian Carcinoma.

Mazzoleni V et al.

Journal of Molecular Biology, 2025

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.

Jackson I et al.

European Journal of Human Genetics : Ejhg, 2023

36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S4_Ballyhanna_ACMG_classi
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