. . . . . . . "[analysis of the protein C gene coding sequences in two sisters with severe congenital protein C deficiency identified 2 mutations in both patients, the previously described Arg169 to Trp mutation, and a novel mutation that changes Cys17 into a stop codon]. 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 . "2017-10-17T13:15:40+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .