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Clinical and biochemical response to elexacaftor/tezacaftor/ivacaftor in a patient with the rare L927P/N1303K CFTR genotype.

Respiratory medicine - 1 Sept 2026

Alwadaei Sayed, Chellam Emily, Allsup Nicki, Shiferaw Dejene

Abstract excerpt

Elexacaftor/tezacaftor/ivacaftor (ETI) has transformed the treatment of cystic fibrosis (CF), although evidence in individuals carrying rare CFTR variants remains limited. We report the clinical and biochemical response to ETI in a 25-year-old woman with advanced CF carrying the rare L927P/N1303K genotype. Following initiation of ETI under specialist supervision, the patient experienced marked improvement in...

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PMID: 42448003
DOI: 10.1016/j.rmed.2026.109031

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Clinical and biochemical response to elexacaftor/tezacaftor/ivacaftor in a patient with the rare L927P/N1303K CFTR genotype.PMID 42448003Read ↗

Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literatureSemantic proximity Read ↗

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