. . . . . . . "[Peptide mass-signature genotyping applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration revealed an A-- > T transversion in the 5'splice site of intron 2 that is the likely cause of disease.]. 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 . "2017-10-17T13:15:55+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .