@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:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_head { this: np:hasAssertion dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion; np:hasProvenance dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance; np:hasPublicationInfo dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_publicationInfo; a np:Nanopublication . dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion a np:Assertion . dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance a np:Provenance . dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_publicationInfo a np:PublicationInfo . } dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion { miriam-gene:1409 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGN80014de9104e8a4a4fb24e3e41c6b2db sio:SIO_000628 miriam-gene:1409, lld:C0086543; a sio:SIO_001122 . } dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_provenance { dgn-np:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_assertion dcterms:description "[Based upon the unique finding of the mutation and the expression of CRYAA in the lens, this R21L mutation in the CRYAA is considered to be causative for the dominant cataract phenotype.]. 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:16453125; 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:NP534199.RApVgBP-F3ovfSPSmwjuZUnBpmHY7PmWtO6-4gRNOOJoM130_publicationInfo { this: dcterms:created "2016-05-13T12:45:46+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" . }