@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:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_head { this: np:hasAssertion dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_assertion; np:hasProvenance dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_provenance; np:hasPublicationInfo dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_publicationInfo; a np:Nanopublication . dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_assertion a np:Assertion . dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_provenance a np:Provenance . dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_publicationInfo a np:PublicationInfo . } dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_assertion { miriam-gene:3842 a ncit:C16612 . lld:C1858679 a ncit:C7057 . dgn-gda:DGN17e4df9fd3e1f8e786e3bb63269a1b43 sio:SIO_000628 miriam-gene:3842, lld:C1858679; a sio:SIO_001121 . } dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_provenance { dgn-np:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_assertion dcterms:description "[To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.]. 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:16564824; 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:NP257979.RA0BbCJctDo2curzJTq6pnJBqpp71rbno0WtQCZ0MKSao130_publicationInfo { this: dcterms:created "2014-10-02T12:34:24+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" . }