@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw
> .
@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:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_head
{
this:
np:hasAssertion
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_assertion
;
np:hasProvenance
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_provenance
;
np:hasPublicationInfo
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_assertion
a
np:Assertion
.
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_provenance
a
np:Provenance
.
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_assertion
{
miriam-gene:728492
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNd49d5a3c10c1af9c9ace06bd37b4b6a7
sio:SIO_000628
miriam-gene:728492
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_provenance
{
dgn-np:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_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:NP535208.RAp5vcxb0UcV7qLZgndlgyM59pHKPB_fpEU8_jGtky6mw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:23+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" .
}