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Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1

Sequence-based testing of disease-susceptibility genes has identified many variants of unknown significance (VUSs) whose pathogenicity is unknown at the time of their measurement. Female breast cancer cases aged 20–49 years at diagnosis and with VUSs in BRCA1 and no mutations in BRCA2 have previousl...

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Autori principali: Dowty, J. G., Lee, E., McKean-Cowdin, R., Henderson, B. E., Bernstein, L., Ursin, G., Hopper, J. L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4059774/
https://ncbi.nlm.nih.gov/pubmed/24481681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-014-2845-6
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