Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K1453_P1454del1
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BRCA2

NM_000059.4:p.K1453_P1454del1

Associated Papers

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.

Wangensteen T et al.

Hereditary Cancer in Clinical Practice, 2019

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_6.xlsx › Sheet1

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

Rodríguez-Balada M et al.

Cancer Genetics, 2016

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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."