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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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Bibliografske podrobnosti
izdano v:Breast Cancer Res Treat
Main Authors: Yang, Ciyu, Jairam, Sowmya, Amoroso, Kimberly A., Robson, Mark E., Walsh, Michael F., Zhang, Liying
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Online dostop: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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