Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1453_V1454del1
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BRCA1

NM_007294.4:p.A1453_V1454del1

Associated Papers

Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.

Bouras A et al.

Genes, 2021

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

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.

de Jong LC et al.

Breast Cancer Research : Bcr, 2017

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

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Colombo M et al.

Human Molecular Genetics, 2014

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Menéndez M et al.

Breast Cancer Research and Treatment, 2012

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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."