Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications
Orphanet J Rare Dis. 2025 Apr 29;20(1):205. doi: 10.1186/s13023-025-03714-3. ABSTRACT BACKGROUND: The high variety of mutations found in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene …