@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:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_head { this: np:hasAssertion dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_assertion; np:hasProvenance dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_provenance; np:hasPublicationInfo dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_publicationInfo; a np:Nanopublication . dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_assertion a np:Assertion . dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_provenance a np:Provenance . dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_publicationInfo a np:PublicationInfo . } dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_assertion { miriam-gene:6101 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGNa9cc98a2059aaba604d091072c9da4bd sio:SIO_000628 miriam-gene:6101, lld:C0035334; a sio:SIO_001122 . } dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_provenance { dgn-np:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_assertion dcterms:description "[If these two novel missense variants are in fact pathogenic, then RP1 mutations account for approximately 2.18% (5/229) of RP cases in our Chinese cohort; this is similar to other ethnic groups. However, a relatively higher frequency of missense mutations found in the Chinese patients may suggest an ethnic diversity in the RP1 mutation patterns.]. 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:20664799; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP52209.RAdVxY2eTokUb6LWQtDKU0MB94CIO7GsiVv2vBUhQGuGg130_publicationInfo { this: dcterms:created "2014-10-02T12:32:24+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" . }