@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_assertion
;
np:hasProvenance
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_provenance
;
np:hasPublicationInfo
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_assertion
a
np:Assertion
.
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_provenance
a
np:Provenance
.
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_assertion
{
miriam-gene:138050
a
ncit:C16612
.
lld:C0086649
a
ncit:C7057
.
dgn-gda:DGN20995ac4dd41ee49705ed65183756a0f
sio:SIO_000628
miriam-gene:138050
,
lld:C0086649
;
a
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.
}
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_provenance
{
dgn-np:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_assertion
dcterms:description
"[In this work we discuss the spectrum of MPS IIIC mutations, their clinical presentation and distribution within the patient population, and speculate how the mutations may affect the structure and function of HGSNAT.]. 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:19479962
;
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:NP536473.RAZe8n9yUFQy8u91jH9Ue4npqOY_NZCz8VlAmM8GbwecU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:23+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" .
}