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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Pubblicato in:Eur J Hum Genet
Autori principali: Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Article
Accesso online: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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