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Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
BACKGROUND: Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protein functionality often remains unknown. Many of the pathogenic missense varia...
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| Publicado no: | Hum Genomics |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6247502/ https://ncbi.nlm.nih.gov/pubmed/30458859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0183-1 |
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