@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U
> .
@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:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_head
{
this:
np:hasAssertion
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_assertion
;
np:hasProvenance
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_provenance
;
np:hasPublicationInfo
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_assertion
a
np:Assertion
.
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_provenance
a
np:Provenance
.
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_assertion
{
miriam-gene:8929
a
ncit:C16612
.
lld:C0020440
a
ncit:C7057
.
dgn-gda:DGNbb17dff7309c9f8e4fbdda5f734c5d0b
sio:SIO_000628
miriam-gene:8929
,
lld:C0020440
;
a
sio:SIO_001121
.
}
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_provenance
{
dgn-np:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_assertion
dcterms:description
"[These studies highlight the utility of PHOX2B genetic testing for confirmation of the CCHS diagnosis, for prenatal diagnosis, and for identification of previously undiagnosed adults with unexplained hypercarbia or control of breathing deficits.]. 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:16054879
;
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:NP718184.RAJwfw7abagVnCUtN0_WOb7e6hRNd5JkR1bj-p2ZbTN2U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:16+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" .
}