Associated Papers
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S3
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
Bertucci F et al.
Genome Medicine, 2021
34006291 (PubMed )
Supplement: 13073_2021_897_MOESM3_ESM.xlsx › Table_S6
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2018
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