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Accurate classification of BRCA1 variants with saturation genome editing
Variants of uncertain significance (VUS) fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumor suppressor in which germline loss-of-function variants predispose women to breast and ovarian cancer. Although BRCA1 has been sequenced in...
Autori principali: | , , , , , , , , , |
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Natura: | Online Articolo testo |
Lingua: | English |
Pubblicazione: |
2018
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Soggetti: | |
Accesso online: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181777/ https://www.ncbi.nlm.nih.gov/pubmed/30209399 http://dx.doi.org/10.1038/s41586-018-0461-z |