@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:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_head { this: np:hasAssertion dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_assertion; np:hasProvenance dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_provenance; np:hasPublicationInfo dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_publicationInfo; a np:Nanopublication . dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_assertion a np:Assertion . dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_provenance a np:Provenance . dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_publicationInfo a np:PublicationInfo . } dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_assertion { miriam-gene:5727 a ncit:C16612 . lld:C0004779 a ncit:C7057 . dgn-gda:DGN93628493d9e8617ae6bd3f05dc6d63c5 sio:SIO_000628 miriam-gene:5727, lld:C0004779; a sio:SIO_001121 . } dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_provenance { dgn-np:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_assertion dcterms:description "[Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome.]. 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:16405370; prov:wasDerivedFrom dgn-void:ctd_human-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^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:NP27428.RAIvAQwIHqSAun6nDvfYLN9RmR6J1sBcYr52A_93roR68130_publicationInfo { this: dcterms:created "2015-08-25T14:37:55+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }