@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo
> .
@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:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_head
{
this:
np:hasAssertion
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_assertion
;
np:hasProvenance
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_provenance
;
np:hasPublicationInfo
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_assertion
a
np:Assertion
.
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_provenance
a
np:Provenance
.
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_assertion
{
miriam-gene:126306
a
ncit:C16612
.
lld:C0024591
a
ncit:C7057
.
dgn-gda:DGN00d5107c79b8619eae643734739307d0
sio:SIO_000628
miriam-gene:126306
,
lld:C0024591
;
a
sio:SIO_001121
.
}
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_provenance
{
dgn-np:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_assertion
dcterms:description
"[The presence of a JSRP1 variant may explain the variable phenotype seen in patients with malignant hyperthermia carrying the same mutation and, more importantly, may counteract the hypersensitivity of EC coupling caused by mutations in the RYR1 gene.]. 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:22927026
;
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:NP729322.RANE7kjVR-qbzvoUwocIEZ3h0_x8EsOHVuqfOAvgWfwWo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:22+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" .
}