Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort.

Abstract excerpt

CFTR variant spectra vary across populations, potentially limiting the transferability of reference classifications. We compared CFTR2 and CFTR-France with a single-centre Turkish cystic fibrosis referral cohort of 418 individuals tested between 2016 and 2022. To avoid incorporation bias, the primary analysis used measured sweat-test status as a genetics-independent anchor; unperformed tests were excluded rather...

Topics

• Humans
• Cystic Fibrosis Transmembrane Conductance Regulator
• Cystic Fibrosis
• Turkey
• Mutation
• Cohort Studies