. . . . . . . "[The mutations included single nucleotide transitions, transversions and deletions, in CFTR (cystic fibrosis transmembrane conductance regulator), COL4A5 (collagen type IV alpha 5 chain), HEXB (hexosaminidase B), and COL1A2 (collagen type 1 alpha 2 chain) genes, responsible for diseases of medical interest.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:32+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .