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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
Institution: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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