@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg
> .
@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/v3.0.0/void/
> .
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_head
{
this:
np:hasAssertion
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_assertion
;
np:hasProvenance
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_provenance
;
np:hasPublicationInfo
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_assertion
a
np:Assertion
.
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_provenance
a
np:Provenance
.
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0024591
a
ncit:C7057
.
dgn-gda:DGN9f3383cd64f1f6e03da4a2f76b792188
sio:SIO_000628
miriam-gene:6261
,
lld:C0024591
;
a
sio:SIO_001121
.
}
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_provenance
{
dgn-np:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_assertion
dcterms:description
"[The identification of novel RYR1 variants and previously observed RYR1 variants of uncertain significance in independent MHS families is necessary for demonstrating the significance of these variants for MH susceptibility and supports the need for functional studies of these variants.]. 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:23558838
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP676864.RASRQuRL1DWWQ6rLrdUhE-D-gdm9EHqmCWoWyWNDdtGWg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:28+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}