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A novel BRCA2 splice variant identified in a young woman

Abstract 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 eleme...

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Principais autores: Arianna Nicolussi, Francesca Belardinilli, Laura Ottini, Marialaura Petroni, Carlo Capalbo, Giuseppe Giannini, Anna Coppa
Formato: Artigo
Idioma:Inglês
Publicado: Wiley 2020-12-01
Series:Molecular Genetics & Genomic Medicine
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Acceso en liña:https://doi.org/10.1002/mgg3.1513
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