@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek
> .
@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#
> .
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_head
{
this:
np:hasAssertion
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_assertion
;
np:hasProvenance
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_provenance
;
np:hasPublicationInfo
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_assertion
a
np:Assertion
.
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_provenance
a
np:Provenance
.
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_assertion
{
miriam-gene:1201
a
ncit:C16612
.
lld:C0008073
a
ncit:C7057
.
dgn-gda:DGN007c6d221fd29a40578da5fecf0fa309
sio:SIO_000628
miriam-gene:1201
,
lld:C0008073
;
a
sio:SIO_001121
.
}
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_provenance
{
dgn-np:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_assertion
dcterms:description
"[This study describes the phenotype/genotype analysis of 159 probands with neuronal ceroid lipofuscinosis (37 CLN1, 72 classic CLN2, 10 variant LINCL, and 40 CLN3) collected at the New York State Institute for Basic Research in Developmental Disabilities (IBR).]. 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:11073228
;
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:NP708310.RARKrpWOdeEJlQTqDC_SXKjNjkMJj6JGtlN2jISBTt_Ek130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:10+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" .
}