Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements. The screening moreover identifies a large number of variants, for example, missense, sile...

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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231409/
https://ncbi.nlm.nih.gov/pubmed/24667779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.40
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