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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Detalles Bibliográficos
Autores principales: Nicolussi, Arianna, Belardinilli, Francesca, Ottini, Laura, Petroni, Marialaura, Capalbo, Carlo, Giannini, Giuseppe, Coppa, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767566/
https://www.ncbi.nlm.nih.gov/pubmed/33159495
http://dx.doi.org/10.1002/mgg3.1513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767566/
https://www.ncbi.nlm.nih.gov/pubmed/33159495
http://dx.doi.org/10.1002/mgg3.1513

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