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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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Bibliografiske detaljer
Udgivet i:Breast Cancer Res Treat
Main Authors: Ahlborn, Lise B., Dandanell, Mette, Steffensen, Ane Y., Jønson, Lars, Nielsen, Finn C., Hansen, Thomas v. O.
Format: Artigo
Sprog:Inglês
Udgivet: Springer US 2015
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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