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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...

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Detalles Bibliográficos
Publicado en:Hered Cancer Clin Pract
Autores principales: Møller, Pål, Hovig, Eivind
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5683587/
https://ncbi.nlm.nih.gov/pubmed/29158857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-017-0080-y
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