. . . . . . . . . . . . "[Recent studies have shown that this rare disease has its origin in key mutations in Hesx-1, a protein that plays a critical role in normal development of the forebrain, eyes, and other anterior structures during embryogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-27"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:45:48+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .