@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo
> .
@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:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_head
{
this:
np:hasAssertion
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_assertion
;
np:hasProvenance
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_provenance
;
np:hasPublicationInfo
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_assertion
a
np:Assertion
.
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_provenance
a
np:Provenance
.
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_assertion
{
miriam-gene:6262
a
ncit:C16612
.
lld:C0023976
a
ncit:C7057
.
dgn-gda:DGN36e34b084fdaea5f21e3d535fa7b5de9
sio:SIO_000628
miriam-gene:6262
,
lld:C0023976
;
a
sio:SIO_001121
.
}
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_provenance
{
dgn-np:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_assertion
dcterms:description
"[A cardiac channel molecular autopsy was performed on 2 individuals who died of unexplained drowning and whose cases were referred to the Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, Minn. Comprehensive mutational analysis of all 60 protein-encoded exons of the 5 long QT syndrome-causing cardiac channel genes and a targeted analysis of 18 RyR2 exons known to host RyR2-mediated CPVT-causing mutations (CPVT1) was performed using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing.]. 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:15887426
;
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:NP494297.RAqjLcsmj1Nh5MTP-dmv4GhBrzbN6LUGdhcMokvXxMpWo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:29+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" .
}