@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4
> .
@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:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_head
{
this:
np:hasAssertion
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_assertion
;
np:hasProvenance
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_provenance
;
np:hasPublicationInfo
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_assertion
a
np:Assertion
.
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_provenance
a
np:Provenance
.
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_assertion
{
miriam-gene:54982
a
ncit:C16612
.
lld:C0022340
a
ncit:C7057
.
dgn-gda:DGN6a952ccd5f4c5022f3303b1408a78f49
sio:SIO_000628
miriam-gene:54982
,
lld:C0022340
;
a
sio:SIO_001121
.
}
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_provenance
{
dgn-np:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_assertion
dcterms:description
"[A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease).]. 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:10428067
;
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:NP915707.RAt7g1QSlTrX2Vmi4on4caOKqTxaGUpgvvC1-0d0mLsK4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:59+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" .
}