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Characterization of BRCA1 Ring Finger Variants of Uncertain Significance

The majority of pathogenic mutations in BRCA1 result in a truncated protein. Although most missense changes in BRCA1 are of unknown functional significance, a handful of deleterious missense mutations have been identified. The majority of these occur in splice sites or highly conserved protein domai...

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Detalhes bibliográficos
Publicado no:Breast Cancer Res Treat
Main Authors: Sweet, Kevin, Senter, Leigha, Pilarski, Robert, Wei, Lai, Toland, Amanda Ewart
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4283813/
https://ncbi.nlm.nih.gov/pubmed/19543972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-009-0438-6
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