. . . . . . . . . . . . "[A gene-dosage effect seems to account for the correlation between the phenotype and the mutations within the gene: SJS would be associated with hypomorph mutations of the perlecan gene and DDSH would be due to the absence of functional perlecan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:45:50+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .