@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA
> .
@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:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_head
{
this:
np:hasAssertion
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_assertion
;
np:hasProvenance
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_provenance
;
np:hasPublicationInfo
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_assertion
a
np:Assertion
.
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_provenance
a
np:Provenance
.
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_assertion
{
miriam-gene:10165
a
ncit:C16612
.
lld:C0175683
a
ncit:C7057
.
dgn-gda:DGN92f2c14aaae108da5e2cd484fedbfbff
sio:SIO_000628
miriam-gene:10165
,
lld:C0175683
;
a
sio:SIO_001121
.
}
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_provenance
{
dgn-np:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_assertion
dcterms:description
"[CTLN2 differs from classical citrullinaemia (CTLN1, OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs 18-21).]. 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:10369257
;
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:NP255047.RAgfbrly9f20BWCYZQPTYcM7GzOEP3RSXV5cySwwk2_HA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:41+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" .
}