. . . . . . . "[We developed a one-tube single-nucleotide primer extension assay for the detection of eight common Mediterranean ?-thalassemia mutations: Codon 5 (-CT); CCT(Pro)->C-, Codon 6 (-A); GAG(Glu)->G-G, Codon 8 (-AA); AAG(Lys)->-G, IVS-I-1 (G->A), IVS-I-6 (T->C), IVS-I-110 (G->A), Codon 39 (C->T), and IVS-II-745 (C->G), as well as the hemoglobin S variant beta 6(A3) Glu>Val.]. 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 . "2017-10-17T13:11:17+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .