@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:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_head { this: np:hasAssertion dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_assertion; np:hasProvenance dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_provenance; np:hasPublicationInfo dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_publicationInfo; a np:Nanopublication . dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_assertion a np:Assertion . dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_provenance a np:Provenance . dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_publicationInfo a np:PublicationInfo . } dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_assertion { miriam-gene:3030 a ncit:C16612 . lld:C0848332 a ncit:C7057 . dgn-gda:DGN604d8b98223e1df99e882580b5b77190 sio:SIO_000628 miriam-gene:3030, lld:C0848332; a sio:SIO_001121 . } dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_provenance { dgn-np:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_assertion dcterms:description "[The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).]. 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:16297647; 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:NP611074.RAh5zHUYoOKjBKnv8BzpnIWbtHjBiJOq7tczDk0lBfrOc130_publicationInfo { this: dcterms:created "2014-10-02T12:38:09+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" . }