http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_head http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://identifiers.org/ncbigene/8671 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0521707 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNe9544723224c74794bc69774d7485130 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8671 http://rdf.disgenet.org/resource/gda/DGNe9544723224c74794bc69774d7485130 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0521707 http://rdf.disgenet.org/resource/gda/DGNe9544723224c74794bc69774d7485130 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15471865 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/dc/terms/created 2015-08-25T14:45:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0