@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:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_head { this: np:hasAssertion dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_assertion; np:hasProvenance dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_provenance; np:hasPublicationInfo dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_publicationInfo; a np:Nanopublication . dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_assertion a np:Assertion . dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_provenance a np:Provenance . dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_publicationInfo a np:PublicationInfo . } dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_assertion { miriam-gene:6101 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGNc6b4eaf510bc8fae4f1a72cf8a9c7d74 sio:SIO_000628 miriam-gene:6101, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_provenance { dgn-np:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_assertion dcterms:description "[To survey patients with dominant retinitis pigmentosa (RP) for mutations in the RP1 gene to determine the spectrum of dominant mutations in this gene, to estimate the proportion of dominant RP caused by this gene, and to determine whether the clinical features of patients with RP1 mutations differ from features of those with rhodopsin mutations.]. 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:11527933; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP674426.RAMjafodV9AgX2SZuwAysfRdLXiZR7F4NHNXoyZdKx8V4130_publicationInfo { this: dcterms:created "2015-08-25T14:44:26+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" . }