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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity |
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| Authors: | Karen S. Raraigh Sangwoo T. Han Emily Davis Taylor A. Evans Matthew J. Pellicore Allison F. McCague Anya T. Joynt Zhongzhou Lu Melis Atalar Neeraj Sharma Molly B. Sheridan Patrick R. Sosnay Garry R. Cutting |
| Affiliation: | 1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;2. Pulmonary and Critical Care Medicine, Johns Hopkins University, Baltimore, MD 21205, USA |
| Abstract: | |
| Keywords: | functional testing variant annotation variable expressivity heterologous expression system CFTR mRNA CFTR protein CFTR function |
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