@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg
> .
@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:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_head
{
this:
np:hasAssertion
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_assertion
;
np:hasProvenance
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_provenance
;
np:hasPublicationInfo
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_assertion
a
np:Assertion
.
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_provenance
a
np:Provenance
.
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_assertion
{
miriam-gene:256471
a
ncit:C16612
.
lld:C0027877
a
ncit:C7057
.
dgn-gda:DGNd0a454310b88ad5ffc1271b5940882c2
sio:SIO_000628
miriam-gene:256471
,
lld:C0027877
;
a
sio:SIO_001122
.
}
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_provenance
{
dgn-np:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_assertion
dcterms:description
"[The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes.]. 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:19431184
;
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:NP981986.RACD3C7p2Qo7vaOvu7UIsn838aEoGmagJY69UcutF0GMg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:40+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" .
}