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Characterization of a novel germline BRCA1 splice variant, c.5332+4delA
PURPOSE: Germline mutations in BRCA1 and BRCA2 confer a significant increase in risk for cancer, and determining pathogenicity of a BRCA variant can guide the clinical management of the disease. About 1/3 of BRCA1 variants reported in the public databases have uncertain clinical significance due to...
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| Vydáno v: | Breast Cancer Res Treat |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6788766/ https://ncbi.nlm.nih.gov/pubmed/29185120 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-017-4595-8 |
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