@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o
> .
@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:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_head
{
this:
np:hasAssertion
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_assertion
;
np:hasProvenance
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_provenance
;
np:hasPublicationInfo
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_assertion
a
np:Assertion
.
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_provenance
a
np:Provenance
.
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_assertion
{
miriam-gene:6262
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGN29f3042ef0c157cb92b831293d9a0bd4
sio:SIO_000628
miriam-gene:6262
,
lld:C0751951
;
a
sio:SIO_001121
.
}
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_provenance
{
dgn-np:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_assertion
dcterms:description
"[It provides a time line over the past half century of the highlights of research on malignant hyperthermia (MH), central core disease (CCD) and catecholaminergic polymorphic ventricular tachycardia (CPVT), that resulted in the identification of the ryanodine receptor (RYR), calsequestrin (CASQ) and dihydropyridine receptor (CACNA1S) genes as sites of disease-causing mutations.]. 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:21118704
;
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:NP244499.RAe6NL57ZxLG78sWoE7XVO1InS7bfQiYaFd8GirGmlF1o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:17+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" .
}