@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs
> .
@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:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_head
{
this:
np:hasAssertion
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_assertion
;
np:hasProvenance
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_provenance
;
np:hasPublicationInfo
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_assertion
a
np:Assertion
.
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_provenance
a
np:Provenance
.
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_assertion
{
miriam-gene:1145
a
ncit:C16612
.
lld:C0751882
a
ncit:C7057
.
dgn-gda:DGN16b5fb5dd1bfeee8b99d17239c71ea8c
sio:SIO_000628
miriam-gene:1145
,
lld:C0751882
;
a
sio:SIO_001121
.
}
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_provenance
{
dgn-np:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_assertion
dcterms:description
"[Forty-three CMS patients from 35 nonrelated families were clinically classified as sporadic cases of CMS (group III according to European Neuromuscular Centre consensus) and were analyzed for epsilon1267delG by PCR amplification and sequence analysis.]. 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:10534268
;
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:NP460494.RA6tfPUOX3VBzC_ioj2SbkSAZ2iGA4_RXoPZRIOl4beqs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:34+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" .
}