Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
Li H, Rodrat M, Al-Salmani MK, Veselu DF, Han ST, Raraigh KS, Cutting GR, Sheppard DN
J Physiol. 2024 Jan;602(2):333-354. doi: 10.1113/JP285727. Epub 2024 Jan 7.
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