@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg
> .
@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:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_head
{
this:
np:hasAssertion
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_assertion
;
np:hasProvenance
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_provenance
;
np:hasPublicationInfo
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_assertion
a
np:Assertion
.
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_provenance
a
np:Provenance
.
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_assertion
{
miriam-gene:1203
a
ncit:C16612
.
lld:C0149676
a
ncit:C7057
.
dgn-gda:DGN5ea74132bf7091dde8973011ea2fcd10
sio:SIO_000628
miriam-gene:1203
,
lld:C0149676
;
a
sio:SIO_001121
.
}
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_provenance
{
dgn-np:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_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:NP630722.RAwJHVpodSELK5I86Kz0PbiPj_cYqPe7WUKAOdF5q8nRg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:20+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" .
}