@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:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_head { this: np:hasAssertion dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion; np:hasProvenance dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance; np:hasPublicationInfo dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo; a np:Nanopublication . dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion a np:Assertion . dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance a np:Provenance . dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion { miriam-gene:3030 a ncit:C16612 . lld:C1969443 a ncit:C7057 . dgn-gda:DGN3f4aae8363e5340f7acde22107e59d9f sio:SIO_000628 miriam-gene:3030, lld:C1969443; a sio:SIO_001121 . } dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance { dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion dcterms:description "[We used single-stranded conformation variance analysis of the exons of the human LCHAD (alpha subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).]. 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:7846063; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo { this: dcterms:created "2016-05-13T12:51:46+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }