Accurate functional classification of thousands of BRCA1 variants with saturation genome editing
Accurate functional classification of thousands of BRCA1 variants with saturation genome editing
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Language
English
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Contents
Variants of uncertain significance (VUS) fundamentally limit the utility of genetic information in a clinical setting. The challenge of VUS is epitomized by BRCA1, a tumor suppressor gene integral to DNA repair and genomic stability. Germline BRCA1 loss-of-function (LOF) variants predispose women to early-onset breast and ovarian cancers. Although...
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Full title
Accurate functional classification of thousands of BRCA1 variants with saturation genome editing
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TN_cdi_proquest_journals_2068836351
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2068836351
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E-ISSN
2692-8205
DOI
10.1101/294520
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https://www.proquest.com/docview/2068836351?pq-origsite=primo&accountid=13902
