@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU
> .
@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:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_head
{
this:
np:hasAssertion
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_assertion
;
np:hasProvenance
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_provenance
;
np:hasPublicationInfo
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_assertion
a
np:Assertion
.
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_provenance
a
np:Provenance
.
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_assertion
{
miriam-gene:8929
a
ncit:C16612
.
lld:C1275808
a
ncit:C7057
.
dgn-gda:DGN12bc2ad884a4a9b38211ca16c85f1848
sio:SIO_000628
miriam-gene:8929
,
lld:C1275808
;
a
sio:SIO_001122
.
}
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_provenance
{
dgn-np:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_assertion
dcterms:description
"[ Our four major findings are the extreme rarity of CCHS, the improved recognition over time, the lack of effect of HSCR on the mortality rate, and the high frequency of PHOX2B mutations.]. 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:15653965
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP53183.RAgTCX_UAWo6mF-87SWXmC0DQdVjjzhyiSdykNhhYXrsU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
}