Article
N1303K (p.Asn1303Lys) variant: Expanding frontiers in the treatment of cystic fibrosis.
Respiratory medicine - 1 Sept 2025
Pacheco Joana, Almeida Leonor, Boaventura Rita, Pereira Ana Luisa, Rodrigues Claudia S, Railean Violeta, Silva Iris Al, Pankonien Ines, Amaral Margarida D, Amorim Adelina
Abstract excerpt
Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by variants in both copies of the CF transmembrane conductance regulator (CFTR) gene, with F508del (p.Phe508del) being the most common variant. While CFTR modulators have revolutionized treatment, their efficacy is mutation-specific, leaving patients with rare variants like N1303K without approved therapeutic options. We present the case of a...
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