@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:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_head { this: np:hasAssertion dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion; np:hasProvenance dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance; np:hasPublicationInfo dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo; a np:Nanopublication . dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion a np:Assertion . dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance a np:Provenance . dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo a np:PublicationInfo . } dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion { miriam-gene:5091 a ncit:C16612 . lld:C0001125 a ncit:C7057 . dgn-gda:DGNc49652cbee9496b5f071d80c64b0d983 sio:SIO_000628 miriam-gene:5091, lld:C0001125; a sio:SIO_001121 . } dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance { dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion dcterms:description "[This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life.]. 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:12112657; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo { this: dcterms:created "2014-10-02T12:40:22+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }