@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4
> .
@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:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_head
{
this:
np:hasAssertion
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_assertion
;
np:hasProvenance
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_provenance
;
np:hasPublicationInfo
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_assertion
a
np:Assertion
.
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_provenance
a
np:Provenance
.
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0263214
a
ncit:C7057
.
dgn-gda:DGNafcc4370ac7f61d54518d6c27982d079
sio:SIO_000628
miriam-gene:6261
,
lld:C0263214
;
a
sio:SIO_001121
.
}
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_provenance
{
dgn-np:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_assertion
dcterms:description
"[However, to date, the true frequency and distribution of the mutations along the RYR1 gene have not been determined yet, since mutation screening has been limited to three 'hot spots', with particular attention to the C-terminal region.]. 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:16621918
;
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:NP524716.RAaINHIOLACUS2Yp0IRQ4zTMRHygy49bLt6kNWdKEcwt4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:14+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" .
}