Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S142Splc
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BRCA2

NM_000059.4:p.S142Splc

Associated Papers

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

Lattimore VL et al.

Frontiers in Oncology, 2018

29774201 (PubMed )
Supplement: table_10.xlsx › Sheet1

Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

Farooq A et al.

Journal of Oncology, 2011

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

Dworkin AM et al.

Familial Cancer, 2009

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

Rashid MU et al.

International Journal of Cancer, 2006

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

Tesoriero AA et al.

Human Mutation, 2005

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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."