@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:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_head { this: np:hasAssertion dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion; np:hasProvenance dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance; np:hasPublicationInfo dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo; a np:Nanopublication . dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion a np:Assertion . dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance a np:Provenance . dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo a np:PublicationInfo . } dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion { miriam-gene:8671 a ncit:C16612 . lld:C0521707 a ncit:C7057 . dgn-gda:DGNe9544723224c74794bc69774d7485130 sio:SIO_000628 miriam-gene:8671, lld:C0521707; a sio:SIO_001121 . } dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance { dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_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-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo { this: dcterms:created "2015-08-25T14:45:45+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }