@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ
> .
@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/
> .
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_head
{
this:
np:hasAssertion
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion
;
np:hasProvenance
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion
a
np:Assertion
.
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance
a
np:Provenance
.
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion
{
miriam-gene:8929
a
ncit:C16612
.
lld:C1275808
a
ncit:C7057
.
dgn-gda:DGN24028ab66b10c81f03c7c68cef982918
sio:SIO_000628
miriam-gene:8929
,
lld:C1275808
;
a
sio:SIO_001121
.
}
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_provenance
{
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_assertion
dcterms:description
"[Because incomplete penetrance can occur in families of CCHS probands with PHOX2B mutations, genetic screening of appropriate family members is indicated to evaluate reproductive risk and because asymptomatic mutation carriers may be at risk for developing alveolar hypoventilation.]. 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:16888290
;
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 .
}
dgn-np:NP562790.RAEl7hAPJzjVyvo7OpRASlGb3XmYcpfMUMckI_QD5teAQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:00+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}