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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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Détails bibliographiques
Publié dans:Breast Cancer Res
Auteurs principaux: de Jong, Lucy C., Cree, Simone, Lattimore, Vanessa, Wiggins, George A. R., Spurdle, Amanda B., Miller, Allison, Kennedy, Martin A., Walker, Logan C.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5706335/
https://ncbi.nlm.nih.gov/pubmed/29183387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13058-017-0919-1
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