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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
kConFab/AOCS Investigators
Institut for Klinisk Medicin
13
Citationer (Scopus)
10
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Keyphrases
BRCA2
100%
Cancer Risk
42%
Exon 3
28%
Exclusion Rates
28%
Posterior Probability
14%
Transcriptome Analysis
14%
Quantitative PCR
14%
Pathogenic Variants
14%
Case-control Analysis
14%
Droplet Digital PCR (ddPCR)
14%
Spliceogenic
14%
Splice Variant
14%
Odds Ratio
14%
Deleterious Effects
14%
Genetic Data
14%
Clinical Data
14%
Cell Function
14%
Breast Cancer Risk
14%
Pathogenicity
14%
Biochemistry, Genetics and Molecular Biology
BRCA2
100%
Exon
28%
Isoform
28%
Genetics
28%
Real-Time Polymerase Chain Reaction
14%
Cell Function
14%
Allele
14%