@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:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_head { this: np:hasAssertion dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion; np:hasProvenance dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance; np:hasPublicationInfo dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_publicationInfo; a np:Nanopublication . dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion a np:Assertion . dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance a np:Provenance . dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_publicationInfo a np:PublicationInfo . } dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion { miriam-gene:8626 a ncit:C16612 . lld:C1785148 a ncit:C7057 . dgn-gda:DGNbaec0c7bcbdf45645e6c78452622b677 sio:SIO_000628 miriam-gene:8626, lld:C1785148; a sio:SIO_001121 . } dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_provenance { dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_assertion dcterms:description "[The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63.]. 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:19239083; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP32704.RAmgSAKU-jk3UA-wltR9a0WRwOBMkoER75LthUjn-7FJY130_publicationInfo { this: dcterms:created "2014-10-02T12:32:14+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" . }