Associated Papers
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.
Canson DM et al.
Genome Research, 2025
40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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