. . . . . . . "[HbE, the result of a G to A mutation in codon 26 of the HBB (?-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced ?(E) -globin (HBB:c.79G>A) mRNA and consequently ?(+) -thalassaemia.]. 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 . "2017-10-17T13:13:13+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .