@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 dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_head { this: np:hasAssertion dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_assertion; np:hasProvenance dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_provenance; np:hasPublicationInfo dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_publicationInfo; a np:Nanopublication . dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_assertion a np:Assertion . dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_provenance a np:Provenance . dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_publicationInfo a np:PublicationInfo . } dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_assertion { miriam-gene:1717 a ncit:C16612 . lld:C0000768 a ncit:C7057 . dgn-gda:DGN78827d7892e1dc266af2d557ecdade7d sio:SIO_000628 miriam-gene:1717, lld:C0000768; a sio:SIO_001121 . } dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_provenance { dgn-np:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_assertion dcterms:description "[These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems.]. 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:8989473; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1365440.RAbo2Pru4Tlc0jdQlWzwqKEpSoLpRGAh_ukH9mYA48eps130_publicationInfo { this: dcterms:created "2016-05-13T12:52:05+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }