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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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Détails bibliographiques
Publié dans:Breast Cancer Res Treat
Auteurs principaux: Sweet, Kevin, Senter, Leigha, Pilarski, Robert, Wei, Lai, Toland, Amanda Ewart
Format: Artigo
Langue:Inglês
Publié: 2009
Sujets:
Accès en ligne: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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