@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:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_head { this: np:hasAssertion dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_assertion; np:hasProvenance dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_provenance; np:hasPublicationInfo dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_publicationInfo; a np:Nanopublication . dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_assertion a np:Assertion . dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_provenance a np:Provenance . dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_publicationInfo a np:PublicationInfo . } dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_assertion { miriam-gene:4285 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGN844de8c2a739fe9d959fb6082bfb4105 sio:SIO_000628 miriam-gene:4285, lld:C0086543; a sio:SIO_001121 . } dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_provenance { dgn-np:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_assertion dcterms:description "[In this review, several mouse models will be discussed with emphasis on the underlying genetic basis rather than the morphological features as exemplified by the following: (i) the most frequent mutations in congenital cataracts affect genes coding for gamma-crystallins (gene symbol: Cryg); (ii) some postnatal, progressive cataracts have been characterized by mutations in the beta-crystallin encoding genes (Cryb); (iii) mutations in genes coding for membrane proteins like MIP or connexins lead to congenital cataracts; (iv) mutations in genes coding for transcription factors such as FoxE3, Maf, Sox1, and Six5 cause cataracts; (v) mouse models suffering from hereditary age-related cataracts (e.g.]. 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:20090208; 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:NP164815.RAUOwJgNBAz2kWWWPNbvnJL3yOGE38FHoIzi3BMgMIOrA130_publicationInfo { this: dcterms:created "2014-10-02T12:33:29+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" . }