@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk
> .
@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:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_head
{
this:
np:hasAssertion
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_assertion
;
np:hasProvenance
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_provenance
;
np:hasPublicationInfo
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_assertion
a
np:Assertion
.
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_provenance
a
np:Provenance
.
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_assertion
{
miriam-gene:80331
a
ncit:C16612
.
lld:C0149676
a
ncit:C7057
.
dgn-gda:DGN4453df998c9e54f626f0b263c341a5f5
sio:SIO_000628
miriam-gene:80331
,
lld:C0149676
;
a
sio:SIO_001121
.
}
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_provenance
{
dgn-np:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_assertion
dcterms:description
"[The current study expands the spectrum of mutations in PPT1 deficiency and further confirms the broad range of age of onset of symptoms resulting from an enzyme deficiency previously associated only with infantile NCL.]. 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:10649502
;
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:NP579663.RAsTaag6qfkhlKgSErbbbJt7M09WlsNxgEdjCFFEb_Udk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:49+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" .
}