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Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
J Physiol. 2024 Jan;602(2):333-354. doi: 10.1113/JP285727. Epub 2024 Jan 7.
J Physiol. 2024.
PMID: 38186087
Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG.
Al Salmani MK, Tavakoli R, Zaman W, Al Harrasi A.
Al Salmani MK, et al.
Physiol Rep. 2022 Jul;10(14):e15341. doi: 10.14814/phy2.15341.
Physiol Rep. 2022.
PMID: 35854468
Free PMC article.
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