@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo
> .
@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:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_head
{
this:
np:hasAssertion
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_assertion
;
np:hasProvenance
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_provenance
;
np:hasPublicationInfo
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_assertion
a
np:Assertion
.
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_provenance
a
np:Provenance
.
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_assertion
{
miriam-gene:388552
a
ncit:C16612
.
lld:C0242994
a
ncit:C7057
.
dgn-gda:DGN52e48bacedbd348a64c5079236f3434c
sio:SIO_000628
miriam-gene:388552
,
lld:C0242994
;
a
sio:SIO_001121
.
}
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_provenance
{
dgn-np:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_assertion
dcterms:description
"[As it is known that HPS is caused by a local mutation in one of the human genes, named HPS1 to HPS8 and PLDN (HPS9), encoding subunit proteins involved in endosomal trafficking pathways, here, we report the mutation causing the siblings disease and a case-control association study of schizophrenia using polymorphisms of a gene to be screened in the mutation analysis.]. 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:23563589
;
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:NP990295.RApCC1xa364HvZDDuG1PwlZLc5pV9XIbRJ9Bvc6snKOlo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:47+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" .
}