@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8
> .
@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/v4.0.0/void/
> .
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_head
{
this:
np:hasAssertion
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion
a
np:Assertion
.
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_provenance
a
np:Provenance
.
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:1200
a
ncit:C16612
.
lld:C0027877
a
ncit:C7057
.
dgn-gda:DGN366b75e372755c0a3d04258018a969f4
sio:SIO_000628
miriam-gene:1200
,
lld:C0027877
;
a
sio:SIO_001121
.
}
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_provenance
{
dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:43+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
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;
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
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pav:version
"v4.0.0" .
}