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

Pediatric pulmonology - 1 Dec 2024

Yıldız Ceren Ayça, Selçuk Balcı Merve, Karabulut Şeyda, Başer Zeynep Münteha, Kalyoncu Mine, Metin Çakar Neval, Akkitap Yiğit Müge Merve, Baysal Eda Esra, Özdemircioğlu Fulya, Uzunoğlu Burcu, Taştan Gamze, Ergenekon Pınar, Gökdemir Yasemin, Erdem Eralp Ela, Karakoç Fazilet, Ata Pınar, Karadağ Bülent

Abstract excerpt

BACKGROUNDS: Genetic variants in CF transmembrane conductance regulator (CFTR) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in CFTR have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey. METHODS: We conducted a descriptive and...

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PMID: 39291770
DOI: 10.1002/ppul.27249
PMCID: PMC11600995

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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