The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey 

Erdoğan et al. (2021) used Genomize-SEQ to analyze CFTR mutations in 316 CF patients from Central Anatolia. They genetically diagnosed 215 patients and uncovered 7 novel variants, expanding the regional mutation map to support more accurate CF screening in Turkey.