@prefix dcterms: . @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:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_head { this: np:hasAssertion dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_assertion; np:hasProvenance dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_provenance; np:hasPublicationInfo dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_publicationInfo; a np:Nanopublication . dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_assertion a np:Assertion . dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_provenance a np:Provenance . dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_publicationInfo a np:PublicationInfo . } dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_assertion { miriam-gene:2737 a ncit:C16612 . lld:C3887487 a ncit:C7057 . dgn-gda:DGN6704a70a5b880e56e1b3d7503e3bff24 sio:SIO_000628 miriam-gene:2737, lld:C3887487; a sio:SIO_001122 . } dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_provenance { dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_assertion dcterms:description "[The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.]. 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:10441570; prov:wasDerivedFrom dgn-void:uniprot-2016; 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-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP317.RA9cJk_Qd42M_pe8n0SIIG7CitJxDJAOlQpuFcPhTMKXI130_publicationInfo { this: dcterms:created "2016-05-13T12:41:50+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" . }