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The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
BACKGROUND: Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, nonsense- and splice-site variants, although some larger pathogenic rearrange...
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| Publicat a: | BMC Cancer |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7203887/ https://ncbi.nlm.nih.gov/pubmed/32375709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12885-020-06917-y |
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