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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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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2014
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| 主題: | |
| オンライン･アクセス: | 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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