Associated Papers
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Montalban G et al.
Human Mutation, 2019
The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.
Gutiérrez-Enríquez S et al.
Breast Cancer Research and Treatment, 2009
Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Chen X et al.
Human Mutation, 2006
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