@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE
> .
@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/v4.0.0/void/
> .
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_head
{
this:
np:hasAssertion
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_assertion
;
np:hasProvenance
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_provenance
;
np:hasPublicationInfo
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_assertion
a
np:Assertion
.
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_provenance
a
np:Provenance
.
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNdddb29faee22fa6c19eea5e99c5bff8c
sio:SIO_000628
miriam-gene:6606
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_provenance
{
dgn-np:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_assertion
dcterms:description
"[Our findings as well as those of other authors show that an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one.]. 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:18337729
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP660374.RA_4XVx-6mcTRvsZ_9fUBj30lPAxsX1o8tewERmXg9FxE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:44+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}