Article

Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis

2025-07-11

Abstract excerpt

Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene enco-ding the cystic fibrosis transmembrane conductance regulator (CFTR) varies both in European countries and in other geographical regions. The aim of the our retrospective study was to present the genetic variants identified in a group of 48 pati...

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Literature Corpus work: 5ac939fc-913f-5497-947e-c9929ff86c21
DOI: 10.20944/preprints202507.0987.v1

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