. . . . . . . "[In the family with the 'ii' blood group we found a novel GCNT2 mutation c.G935A (p.G312D) in the cataract patients, while in the family with hyperferritinemia cataract syndrome we identified a G?C heterozygous mutation at position +32 of FTL.]. 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 . "2017-10-17T13:12:51+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .