@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:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_head { this: np:hasAssertion dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_assertion; np:hasProvenance dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_provenance; np:hasPublicationInfo dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_publicationInfo; a np:Nanopublication . dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_assertion a np:Assertion . dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_provenance a np:Provenance . dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_publicationInfo a np:PublicationInfo . } dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_assertion { miriam-gene:6121 a ncit:C16612 . lld:C0008925 a ncit:C7057 . dgn-gda:DGNa21f8065d12b03e3dbdf88a443d88210 sio:SIO_000628 miriam-gene:6121, lld:C0008925; a sio:SIO_001121 . } dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_provenance { dgn-np:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_assertion dcterms:description "[The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients.]. 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:21434540; 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:NP881956.RAmyNa92ofwpHIZkL00Wc7ME46aTOW9NeKun2j553gOAc130_publicationInfo { this: dcterms:created "2016-05-13T12:48:24+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" . }