@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:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_head { this: np:hasAssertion dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_assertion; np:hasProvenance dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_provenance; np:hasPublicationInfo dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_publicationInfo; a np:Nanopublication . dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_assertion a np:Assertion . dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_provenance a np:Provenance . dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_assertion { miriam-gene:7287 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN4c3a25ce4a1eadb3e12c8ce1c4414ae6 sio:SIO_000628 miriam-gene:7287, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_provenance { dgn-np:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_assertion dcterms:description "[A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.]. 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:18432314; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP762550.RA1QMPyj457Jk99C_JO0ZFXwnIcLwCcCJOSAcdfXe2hdQ130_publicationInfo { this: dcterms:created "2014-10-02T12:39:41+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" . }