@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk
> .
@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:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_head
{
this:
np:hasAssertion
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_assertion
;
np:hasProvenance
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_provenance
;
np:hasPublicationInfo
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_assertion
a
np:Assertion
.
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_provenance
a
np:Provenance
.
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_assertion
{
miriam-gene:10046
a
ncit:C16612
.
lld:C0282527
a
ncit:C7057
.
dgn-gda:DGN62d68d4047286fb816e09d0e4e88e8bd
sio:SIO_000628
miriam-gene:10046
,
lld:C0282527
;
a
sio:SIO_001121
.
}
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_provenance
{
dgn-np:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_assertion
dcterms:description
"[In the present work, we found that peroxisomes were morphologically and biochemically formed at 30 but not 37 degrees C, in the fibroblasts from all CG1 IRD patients examined, whereas almost no peroxisomes were seen in ZS and NALD cells, even at 30 degrees C. A point missense mutation, G843D, was identified in the PEX1 allele of most CG1 IRD patients.]. 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:9817926
;
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:NP824046.RAbsQiy3bSfP6iTNcbR1BkDI4L3SPbN3vZKXcLvqyFEDk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:24+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" .
}