@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I
> .
@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:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_head
{
this:
np:hasAssertion
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_assertion
;
np:hasProvenance
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_provenance
;
np:hasPublicationInfo
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_assertion
a
np:Assertion
.
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_provenance
a
np:Provenance
.
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_assertion
{
miriam-gene:2588
a
ncit:C16612
.
lld:C0149676
a
ncit:C7057
.
dgn-gda:DGN25622468d5eb43d329e768f92e7ce6f6
sio:SIO_000628
miriam-gene:2588
,
lld:C0149676
;
a
sio:SIO_001121
.
}
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_provenance
{
dgn-np:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_assertion
dcterms:description
"[Transient expression in GalNAc6S sulfatase deficient fibroblasts of these two mutant alleles showed completely deficient or markedly decreased enzyme activities, thereby indicating that these two mutations were responsible for the enzyme deficiency.]. 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:1522213
;
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:NP417791.RAp32CNyGIsnj0kZHpOyoFDnwdlCQt-rnA6BLecfMTw8I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:43+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" .
}