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Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Ceren Ayça YıldızMerve Selcuk BalcıŞeyda KarabulutZeynep Münteha BaşerMine Yüksel KalyoncuNeval Metin ÇakarMüge Merve Akkitap YiğitEda Esra BaysalFulya ÖzdemircioğluBurcu UzunoğluGamze TaştanAlmala Pınar ErgenekonYasemin GökdemirEla Erdem EralpFazilet KarakoçPınar AtaBülent Karadağ
Published in: Pediatric pulmonology (2024)
Our research underscores the heterogeneity of CFTR variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of CFTR variants with the advent of CFTR modulators.
Keyphrases
  • cystic fibrosis
  • copy number
  • pseudomonas aeruginosa
  • lung function
  • single cell
  • genome wide
  • small molecule
  • air pollution
  • genetic diversity