@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:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_head { this: np:hasAssertion dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion; np:hasProvenance dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance; np:hasPublicationInfo dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo; a np:Nanopublication . dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion a np:Assertion . dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance a np:Provenance . dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo a np:PublicationInfo . } dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion { miriam-gene:760 a ncit:C16612 . lld:C0001126 a ncit:C7057 . dgn-gda:DGN53b4dfdb3515225b096d8c96e833236d sio:SIO_000628 miriam-gene:760, lld:C0001126; a sio:SIO_001121 . } dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance { dgn-np:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion dcterms:description "[We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation.]. 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:20935402; 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:NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo { this: dcterms:created "2015-08-25T14:40:17+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" . }