. . . . . . . . . . . . "[report of 17 novel mutations that cause profound biotinidase deficiency/of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene ]. 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 . "2014-10-02T12:33:21+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .