@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:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_head { this: np:hasAssertion dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_assertion; np:hasProvenance dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_provenance; np:hasPublicationInfo dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_publicationInfo; a np:Nanopublication . dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_assertion a np:Assertion . dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_provenance a np:Provenance . dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_publicationInfo a np:PublicationInfo . } dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_assertion { miriam-gene:10970 a ncit:C16612 . lld:C0265554 a ncit:C7057 . dgn-gda:DGN31ef474064cf8b708ef6a39d7af02b1e sio:SIO_000628 miriam-gene:10970, lld:C0265554; a sio:SIO_001121 . } dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_provenance { dgn-np:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_assertion dcterms:description "[Interestingly, the human p63 gene is mutated in children who have the disease Ectrodactyly, Ectodermal dysplasia and facial Clefts (EEC) syndrome, and the disease phenotype is similar to the one of p63-deficient mice.]. 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:10769197; 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:NP281491.RAkYhNIH_fbeASPJo4Uunc2en3CiX6xihe3EUcyp4VDdk130_publicationInfo { this: dcterms:created "2016-05-13T12:43:53+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" . }