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A novel BRCA2 splice variant identified in a young woman
BACKGROUND: BRCA1/2 VUSs represent an important clinical issue in risk assessment for the breast/ovarian cancer families (HBOC) families. Among them, some occurring within the intron‐exon boundary may lead to aberrant splicing process by altering or creating de novo splicing regulatory elements or u...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767566/ https://ncbi.nlm.nih.gov/pubmed/33159495 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1513 |
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