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Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clinical Significance

Although in vitro splicing assays can provide useful information about the clinical interpretation of sequence variants in high-risk cancer genes such as BRCA1 and BRCA2, results can sometimes be difficult to interpret. The BRCA1 c.135-1G>T (IVS3-1G>T) variant has been shown to give rise to an...

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Hlavní autoři: Spurdle, Amanda B., Lakhani, Sunil R., Da Silva, Leonard M., Balleine, Rosemary L., Investigators, kConFab, Goldgar, David E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2852636/
https://ncbi.nlm.nih.gov/pubmed/20020529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21181
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