Article

High-Throughput Functional Evaluation of <i>BRCA2</i> Variants of Unknown Significance

2020-01-18

Abstract excerpt

<h4>ABSTRACT</h4> 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 , we developed a novel method, the MANO-B method, for high-throughput functional evaluatio...

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Literature Corpus work: b608cb34-e6da-5d8b-a175-bc82290f2449
DOI: 10.1101/2020.01.17.911057

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