http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_head
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://identifiers.org/ncbigene/5972
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/C0002871
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/gene-disease-association.ttl#DGNa553f41856b98632874cd1ab4bce0d3b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5972
http://rdf.disgenet.org/gene-disease-association.ttl#DGNa553f41856b98632874cd1ab4bce0d3b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0002871
http://rdf.disgenet.org/gene-disease-association.ttl#DGNa553f41856b98632874cd1ab4bce0d3b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://purl.org/dc/terms/description
[Through linkage analysis and candidate gene sequencing, we identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19664745
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/dc/terms/created
2014-10-02T12:33:54+02:00
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP207619.RAFamBKG6xOoJS-33YqKC7TV95hKany3Jc5V_goK9_G5Y
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0