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Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Authors:Neeraj Sharma  Patrick R. Sosnay  Anabela S. Ramalho  Christopher Douville  Arianna Franca  Laura B. Gottschalk  Jeenah Park  Melissa Lee  Briana Vecchio‐Pagan  Karen S. Raraigh  Margarida D. Amaral  Rachel Karchin  Garry R. Cutting
Affiliation:1. McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;2. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;3. Faculty of Sciences, BioFIG – Centre for Biodiversity, Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal;4. Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland;5. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
Abstract:
Keywords:expression minigene  splicing  CFTR  in silico tools
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