@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:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_head { this: np:hasAssertion dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_assertion; np:hasProvenance dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_provenance; np:hasPublicationInfo dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_publicationInfo; a np:Nanopublication . dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_assertion a np:Assertion . dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_provenance a np:Provenance . dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_publicationInfo a np:PublicationInfo . } dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_assertion { miriam-gene:7546 a ncit:C16612 . lld:C1864827 a ncit:C7057 . dgn-gda:DGN511e611ceff884226ec96ce4407bc6f7 sio:SIO_000628 miriam-gene:7546, lld:C1864827; a sio:SIO_001122 . } dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_provenance { dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_assertion dcterms:description "[The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:19177455; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP7156.RALd7NROEhVp0UDfMh0aI4619UIAKqSmDtZ4-c-_MasgI130_publicationInfo { this: dcterms:created "2014-10-02T12:32:01+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }