. . . . . . . "[CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia/, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:36+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .