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Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study
PURPOSE: While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy. MATERIALS AND METHODS: Out of genetically tested 3,568 hered...
Autores principales: | Bozsik, Anikó, Papp, János, Grolmusz, Vince Kornél, Patócs, Attila, Oláh, Edit, Butz, Henriett |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Cancer Association
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582465/ https://www.ncbi.nlm.nih.gov/pubmed/35167739 http://dx.doi.org/10.4143/crt.2021.1078 |
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