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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Foilsithe in:Eur J Hum Genet
Main Authors: Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2014
Ábhair:
Article
Rochtain Ar Líne: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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