Associated Papers
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
Alenezi WM et al.
Genes, 2022
35456503 (PubMed )
Supplement: genes-13-00697-s001.zip › genes-1650796-supplementary.xlsx › Suppl_Table_S3
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban G et al.
Journal of Medical Genetics, 2019
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