. . . . . . . . . . . . "[About 1 in 975 individuals in the general population will be heterozygous for the hyperactive p.W493R-SCNN1A mutation and a cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in very low amounts (0-10%) functional CFTR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:56+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .