@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_head
{
this:
np:hasAssertion
dgn-np:NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
;
np:hasProvenance
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;
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
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
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
"v4.0.0.0" .
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pav:version
"v4.0.0" .
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