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Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

BACKGROUND: Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to detect pathogenic variants, but also lead to identification of variants of...

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Detalhes bibliográficos
Publicado no:Hered Cancer Clin Pract
Main Authors: Wangensteen, Teresia, Felde, Caroline Nangota, Ahmed, Deeqa, Mæhle, Lovise, Ariansen, Sarah Louise
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6532242/
https://ncbi.nlm.nih.gov/pubmed/31143303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-019-0113-9
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