Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants

PCR-based RNA splicing assays are commonly used in diagnostic and research settings to assess the potential effects of variants of uncertain clinical significance in BRCA1 and BRCA2. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium completed a multicen...

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Bibliographische Detailangaben
Veröffentlicht in:Front Oncol
Hauptverfasser: Lattimore, Vanessa L., Pearson, John F., Currie, Margaret J., Spurdle, Amanda B., Robinson, Bridget A., Walker, Logan C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018
Schlagworte:
Oncology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5943536/
https://ncbi.nlm.nih.gov/pubmed/29774201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fonc.2018.00140
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