@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY
> .
@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:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_head
{
this:
np:hasAssertion
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_assertion
;
np:hasProvenance
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_provenance
;
np:hasPublicationInfo
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_assertion
a
np:Assertion
.
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_provenance
a
np:Provenance
.
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_assertion
{
miriam-gene:79158
a
ncit:C16612
.
lld:C0026697
a
ncit:C7057
.
dgn-gda:DGN7d90a99800f44cc6d11ade356cb0cc98
sio:SIO_000628
miriam-gene:79158
,
lld:C0026697
;
a
sio:SIO_001122
.
}
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_provenance
{
dgn-np:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_assertion
dcterms:description
"[The results of this study confirm that Mucolipidosis (ML) II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the GNPTA mutations ]. 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:16630736
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP153804.RAB7hPk4z2XI1MPD-slSSEPAAC9NqhLyX7IobFaonsRYY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:21+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" .
}