Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G183Splc
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BRCA1

NM_007294.4:p.G183Splc

Associated Papers

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Karalidou V et al.

Biomolecules, 2022

36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

Michils G et al.

The Journal of Molecular Diagnostics : Jmd, 2012

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Palomba G et al.

Bmc Cancer, 2009

BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

Ang P et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Loizidou M et al.

Clinical Genetics, 2007

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G et al.

Breast Cancer Research and Treatment, 2006

BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

Capalbo C et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2006

Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Hadjisavvas A et al.

Cancer Genetics and Cytogenetics, 2004

Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.

Osorio A et al.

International Journal of Cancer, 2002

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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."