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Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

BACKGROUND: Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence. However, our knowledge of normal and aberrant BRCA1 splicing events to date has been limited to data derived from assays targeting par...

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Detalles Bibliográficos
Autores principales:	de Jong, Lucy C., Cree, Simone, Lattimore, Vanessa, Wiggins, George A. R., Spurdle, Amanda B., Miller, Allison, Kennedy, Martin A., Walker, Logan C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706335/ https://www.ncbi.nlm.nih.gov/pubmed/29183387 http://dx.doi.org/10.1186/s13058-017-0919-1

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