@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4
> .
@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:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_head
{
this:
np:hasAssertion
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_assertion
a
np:Assertion
.
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_provenance
a
np:Provenance
.
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_assertion
{
miriam-gene:3033
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGN2b970685fad3f46ea1faf49869a9fca9
sio:SIO_000628
miriam-gene:3033
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_provenance
{
dgn-np:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_assertion
dcterms:description
"[We investigated individuals with hyperinsulinaemic hypoglycaemia and biochemical or genetic evidence to suggest noncoding mutations by using NGS to analyze the entire genomic regions of ABCC8 (117 kb) and HADH (94 kb) from overlapping ~10 kb PCR amplicons.]. 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:23273570
;
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:NP1039188.RAl8rgN3T8PzQ63UYoS4htY9IfJDLZNFUi5wfb4HzgFj4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:37+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" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}