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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary o...
Autores principales: | Minucci, Angelo, Concolino, Paola, De Bonis, Maria, Costella, Alessandra, Paris, Ida, Scambia, Giovanni, Capoluongo, Ettore |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/ https://www.ncbi.nlm.nih.gov/pubmed/29760936 http://dx.doi.org/10.1038/s41439-018-0003-0 |
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