. . . . . . . . . . . . "[A novel mutation affecting the OSTM1 locus responsible for ARO/addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development.]. 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 . "2014-10-02T12:33:15+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .