@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:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_head { this: np:hasAssertion dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_assertion; np:hasProvenance dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_provenance; np:hasPublicationInfo dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_publicationInfo; a np:Nanopublication . dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_assertion a np:Assertion . dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_provenance a np:Provenance . dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_publicationInfo a np:PublicationInfo . } dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_assertion { miriam-gene:6103 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN1695708530a2a63cc4f7bf08fc9766a2 sio:SIO_000628 miriam-gene:6103, lld:C0035334; a sio:SIO_001122 . } dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_provenance { dgn-np:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_assertion dcterms:description "[Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia.]. 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:20021257; 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:NP782405.RAw1Xppi5FM1sGO27MG2wSXVWopGO3sOJ0I5B8F8urcXU130_publicationInfo { this: dcterms:created "2016-05-13T12:47:39+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" . }