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Updated: Sep 23, 2025

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Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
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CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With
E Claire Elson1, Paula Capel1, Jessica Haynes1
1Children's Mercy, Kansas City, MO.
Abstract:
This report describes a case of a 15-year-old male with cystic fibrosis caused by N1303K and Q493X cystic fibrosis transmembrane conductance regulator (CFTR) protein variants. In this case, CFTR modulators including tezacaftor-ivacaftor and subsequently elexacaftor-tezacaftor-ivacaftor were used and resulted in clinical stability and improvement.
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