@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA
> .
@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:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_head
{
this:
np:hasAssertion
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_assertion
;
np:hasProvenance
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_provenance
;
np:hasPublicationInfo
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_assertion
a
np:Assertion
.
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_provenance
a
np:Provenance
.
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_assertion
{
miriam-gene:9587
a
ncit:C16612
.
lld:C2079538
a
ncit:C7057
.
dgn-gda:DGNa3aa3c7c4af5e9bd31ccd9da94d5e57a
sio:SIO_000628
miriam-gene:9587
,
lld:C2079538
;
a
sio:SIO_001121
.
}
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_provenance
{
dgn-np:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_assertion
dcterms:description
"[To determine the prevalence and phenotypes of CMT2A within our clinics we performed genetic testing on 99 patients with CMT2 evaluated at Wayne State University in Detroit and on 27 patients with CMT2 evaluated in the National Hospital for Neurology and Neurosurgery in London.]. 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:21508331
;
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:NP427507.RAL8M4Vmqinv5eu86RfRM_yzCZTy31ur0agb_D2bUpzOA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:13+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" .
}