@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:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_head { this: np:hasAssertion dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_assertion; np:hasProvenance dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_provenance; np:hasPublicationInfo dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_publicationInfo; a np:Nanopublication . dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_assertion a np:Assertion . dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_provenance a np:Provenance . dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_publicationInfo a np:PublicationInfo . } dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_assertion { miriam-gene:373159 a ncit:C16612 . lld:C0042798 a ncit:C7057 . dgn-gda:DGN6b5aa00b0db7f322ca19b16aaf2f1b07 sio:SIO_000628 miriam-gene:373159, lld:C0042798; a sio:SIO_001121 . } dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_provenance { dgn-np:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_assertion dcterms:description "[Interestingly, about 30% of male sporadic cases and 30% of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years.]. 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:16969763; 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:NP309265.RAGG5nyVTd7pIWu_WfQkN1YsWhq7K20YPs2Gklp8kU7oc130_publicationInfo { this: dcterms:created "2014-10-02T12:34:57+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" . }