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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...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , |
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| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
2010
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | 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 |
| ট্যাগগুলো: |
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