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Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic
Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently n...
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| Udgivet i: | Breast Cancer Res Treat |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer US
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4368840/ https://ncbi.nlm.nih.gov/pubmed/25724305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-015-3313-7 |
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