Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G183Splc
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BRCA1

NM_007294.4:p.G183Splc

Associated Papers

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.

Alenezi WM et al.

Genes, 2022

35456503 (PubMed )
Supplement: genes-13-00697-s001.zip › genes-1650796-supplementary.xlsx › Suppl_Table_S3

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf

Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing.

Burger JD et al.

Database : the Journal of Biological Databases and Curation, 2014

25246425 (PubMed )
Supplement: supp_bau094_Appendix_D_v30.docx

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

Karami F et al.

Biomed Research International, 2013

BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

Solano AR et al.

Springerplus, 2012

Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family.

Ratanaphan A et al.

Journal of Genetics, 2011

Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.

De Silva W et al.

Bmc Cancer, 2008

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

Saxena S et al.

Bmc Medical Genetics, 2006

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