@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_assertion
a
np:Assertion
.
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_provenance
a
np:Provenance
.
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a
np:PublicationInfo
.
}
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{
miriam-gene:8929
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGNd426d32da7600d11411044f193d33acb
sio:SIO_000628
miriam-gene:8929
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_provenance
{
dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_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:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
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dgn-np:NP476494.RAczZAjaH2zjAWRb2y1LzlYUI9bBZDqBJWhPmsR5RQ508130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:21+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
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;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
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> , <
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
"v4.0.0.0" .
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pav:version
"v4.0.0" .
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