@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo
> .
@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/v3.0.0/void/
> .
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_head
{
this:
np:hasAssertion
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_assertion
;
np:hasProvenance
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_provenance
;
np:hasPublicationInfo
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_assertion
a
np:Assertion
.
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_provenance
a
np:Provenance
.
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_assertion
{
miriam-gene:8452
a
ncit:C16612
.
lld:C0020538
a
ncit:C7057
.
dgn-gda:DGNe66c3c95707ae5c9219734cf4e727a77
sio:SIO_000628
miriam-gene:8452
,
lld:C0020538
;
a
sio:SIO_001121
.
}
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_provenance
{
dgn-np:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_assertion
dcterms:description
"[Since chronic acidosis and hypertension associated with PHA-II can result in delayed growth and development in pediatric patients, genetic analysis to detect the CUL3 mutation and to enable intervention early in the disease course would be beneficial for infants with suspected PHA-II.]. 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:23689903
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP796519.RAN9x10INKJ_oVBKaQCuFQzuhDzBWpO-4fNlMiVjcbxBo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:42+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}