@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c
> .
@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:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_head
{
this:
np:hasAssertion
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion
;
np:hasProvenance
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance
;
np:hasPublicationInfo
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion
a
np:Assertion
.
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance
a
np:Provenance
.
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGNdbc120a40e9a785f07bf6d726ea278f7
sio:SIO_000628
miriam-gene:6261
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance
{
dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion
dcterms:description
"[Although a clinical overlap between patients with dominant and recessive RYR1 mutations exists, in most cases with recessive mutations the pattern of muscle weakness is remarkably different from that observed in dominant CCD.]. 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:17483490
;
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:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:35+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" .
}