@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U
> .
@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:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_head
{
this:
np:hasAssertion
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_assertion
;
np:hasProvenance
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_provenance
;
np:hasPublicationInfo
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_assertion
a
np:Assertion
.
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_provenance
a
np:Provenance
.
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_assertion
{
miriam-gene:1201
a
ncit:C16612
.
lld:C0022340
a
ncit:C7057
.
dgn-gda:DGNa4bc967c32e086303568f4410aab4833
sio:SIO_000628
miriam-gene:1201
,
lld:C0022340
;
a
sio:SIO_001121
.
}
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_provenance
{
dgn-np:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_assertion
dcterms:description
"[The ultrastructure of accruing lipopigments is diagnostically required to recognize an individual patient's NCL by showing granular lipopigments in INCL, curvilinear profiles (with or without fingerprint profiles) in LINCL and fingerprint profiles (with or without curvilinear profiles) in JNCL.]. 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:8969009
;
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:NP193228.RAac1DGIIjP6nWhWm3B93hxNUIS1oh5P3fh5RN02ssn3U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:46+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" .
}