High-throughput functional evaluation of BRCA2 variants of unknown significance
High-throughput functional evaluation of BRCA2 variants of unknown significance
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Numerous nontruncating missense variants of the
BRCA2
gene have been identified, but there is a lack of convincing evidence, such as familial data, demonstrating their clinical relevance and they thus remain unactionable. To assess the pathogenicity of variants of unknown significance (VUSs) within
BRCA2
, here we develop a method, the...
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Full title
High-throughput functional evaluation of BRCA2 variants of unknown significance
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TN_cdi_doaj_primary_oai_doaj_org_article_232e6a0f6eaf4785a36ff58421838450
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_232e6a0f6eaf4785a36ff58421838450
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-16141-8
