http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_head http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://identifiers.org/ncbigene/760 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/C0001126 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/DGN53b4dfdb3515225b096d8c96e833236d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/760 http://rdf.disgenet.org/resource/gda/DGN53b4dfdb3515225b096d8c96e833236d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001126 http://rdf.disgenet.org/resource/gda/DGN53b4dfdb3515225b096d8c96e833236d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_provenance http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_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/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20935402 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_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/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/dc/terms/created 2015-08-25T14:40:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP276429.RAgjo1DeL05lK2AKMhjvXQLh0ekmaiFVjJ93a9NyzLm_c 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