@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:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_head { this: np:hasAssertion dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion; np:hasProvenance dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance; np:hasPublicationInfo dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_publicationInfo; a np:Nanopublication . dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion a np:Assertion . dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance a np:Provenance . dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_publicationInfo a np:PublicationInfo . } dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion { miriam-gene:8671 a ncit:C16612 . lld:C0268435 a ncit:C7057 . dgn-gda:DGNb426b2fea2cd11bdea6457650e580a88 sio:SIO_000628 miriam-gene:8671, lld:C0268435; a sio:SIO_001121 . } dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance { dgn-np:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion dcterms:description "[Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.]. 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:15471865; 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:NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_publicationInfo { this: dcterms:created "2016-05-13T12:45:15+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" . }