@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_head
{
this:
np:hasAssertion
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_assertion
;
np:hasProvenance
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_provenance
;
np:hasPublicationInfo
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_assertion
a
np:Assertion
.
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_provenance
a
np:Provenance
.
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_assertion
{
miriam-gene:3030
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGNa987704198440ea4ebaf92186be302e2
sio:SIO_000628
miriam-gene:3030
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_provenance
{
dgn-np:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_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-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:NP691840.RAxOk2B0Hx9AieyvRFSyTvg79EG82tXl1BRmVVA8POvnw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:00+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}