@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ
> .
@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:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_head
{
this:
np:hasAssertion
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_assertion
;
np:hasProvenance
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_assertion
a
np:Assertion
.
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_provenance
a
np:Provenance
.
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_assertion
{
miriam-gene:8293
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN637de443cd73d379dde4c3492aaca910
sio:SIO_000628
miriam-gene:8293
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_provenance
{
dgn-np:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_assertion
dcterms:description
"[Our results suggest that extent of deletions encompassing H4F5, SMN1, NAIP and copy number of SMN2 gene can modify the SMA phenotype, thus accounting for the different clinical subtypes of the disease.]. 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:16000867
;
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:NP724263.RAJNmPTrDAAcdjAWB9t5BAr_N3dJ4bxRko00r0VbBypYQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:19+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" .
}