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TITLE: CFTR modulator theratyping: Current status, gaps and future directions  Full Text
AUTHORS: John Paul Clancy; Calvin U Cotton; Scott H Donaldson; George M Solomon; Donald R VanDevanter; Michael P Boyle; Martina Gentzsch; Jerry A Nick; Beate Illek; John C Wallenburg; Eric J Sorscher; Margarida D Amaral; Jeffrey M Beekman; Anjaparavanda P Naren; Robert J Bridges; Philip J Thomas; Garry Cutting; Steven Rowe; Anthony G Durmowicz; Martin Mense; Kris D Boeck; William Skach; Christopher Penland; Elizabeth Joseloff; Hermann Bihler; John Mahoney; Drucy Borowitz; Katherine L Tuggle; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
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TITLE: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Full Text
AUTHORS: Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui H Yu; Neeraj Sharma; Anabela S Ramalho ; Margarida D Amaral ; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting; ...More
PUBLISHED: 2013, SOURCE: NATURE GENETICS, VOLUME: 45, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef