@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU
> .
@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:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_assertion
;
np:hasProvenance
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_provenance
;
np:hasPublicationInfo
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_assertion
a
np:Assertion
.
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_provenance
a
np:Provenance
.
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_assertion
{
miriam-gene:1200
a
ncit:C16612
.
lld:C0022340
a
ncit:C7057
.
dgn-gda:DGN818824f6d9904f94ffd8ad7911fa6e00
sio:SIO_000628
miriam-gene:1200
,
lld:C0022340
;
a
sio:SIO_001121
.
}
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_provenance
{
dgn-np:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_assertion
dcterms:description
"[Complementary molecular studies identified mutations in the CLN2 gene in the archival tissues and thereby convincingly demonstrated that these three children truly had classic late infantile neuronal ceroid lipofuscinosis (LINCL), now called CLN2.]. 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:11588998
;
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:NP452013.RAfA0jE9MEgK2fOFBAeRJUnVt0Huxiun-jcWZH3La9icU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:29+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
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"v2.1.0" .
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