Varaico: Literature-Extracted Genetic Variants

Gene:TOPBP1
Variant:p.S817L
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TOPBP1

NM_007027.4:p.S817L

Associated Papers

Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.

Liu Y et al.

Biomedicines, 2022

35625741 (PubMed )
Supplement: biomedicines-10-01004-s001.zip › supplementary › Suppletables.xlsx › Table_S2

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.

Pratz KW et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer.

Karppinen SM et al.

European Journal of Cancer (oxford, England : 1990), 2006

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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."