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The BRCA2 variant c.68-7 T>A is associated with breast cancer
BACKGROUND: BRCA2 c.68-7T>A has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic BRCA2 variants. The pathogenicity of the variant is discussed. METHODS: The outpatient genetic clinic a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683587/ https://www.ncbi.nlm.nih.gov/pubmed/29158857 http://dx.doi.org/10.1186/s13053-017-0080-y |