http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_head http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_assertion http://identifiers.org/ncbigene/5009 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/C0751753 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#DGN1220c9f1bf3ed8448cca407481a5a0cb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5009 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1220c9f1bf3ed8448cca407481a5a0cb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751753 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1220c9f1bf3ed8448cca407481a5a0cb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_assertion http://purl.org/dc/terms/description [While genetic analysis of the X-chromosomal transmitted ornithine transcarbamylase deficiency (OTC) is performed by exon-wise mutation screening of genomic DNA in most cases, identification of mutations in the autosomal inherited carbamoylphosphate synthetase (CPS 1) deficiency requires analysis of transcripts due to the unknown genomic structure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_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#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11388595 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_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#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_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#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/dc/terms/created 2014-10-02T12:41:06+02:00 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP888655.RABerdHWrVWPLLDb_ioojJV1t7x7-zDwk9-m14bKRySMY 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