@prefix dc: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_head { this: np:hasAssertion dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_assertion; np:hasProvenance dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_provenance; np:hasPublicationInfo dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_publicationInfo; a np:Nanopublication . dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_assertion a np:Assertion . dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_provenance a np:Provenance . dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_publicationInfo a np:PublicationInfo . } dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_assertion { miriam-gene:10585 a ncit:C16612 . lld:C0025362 a ncit:C7057 . dgn-gda:DGN8882f596f3be15521f0f6e8e2d5defe2 sio:SIO_000628 miriam-gene:10585, lld:C0025362; a sio:SIO_001122 . } dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_provenance { dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_assertion dc:description "[Thirteen CMD patients showed mutations in POMT1, But normal brain MRI associated with mental retardation and microcephaly.mutations in POMT1 (six out of 13).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:18513969; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP126774.RAulXE5oFBWkI8DBuTyrBehlFqaQWRefvgYHj-0fDMGMI130_publicationInfo { this: dc:created "2014-10-02T12:33:06+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }