@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM
> .
@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:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_head
{
this:
np:hasAssertion
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_assertion
;
np:hasProvenance
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_assertion
a
np:Assertion
.
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_provenance
a
np:Provenance
.
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0026846
a
ncit:C7057
.
dgn-gda:DGN6de6f4fc3def2c1d3a12d853f07935ca
sio:SIO_000628
miriam-gene:6606
,
lld:C0026846
;
a
sio:SIO_001121
.
}
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_provenance
{
dgn-np:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_assertion
dcterms:description
"[These findings indicate that deletions at the SMN locus are not present in BMA of upper and lower limb and suggest that these disorders are not only clinically but also genetically separate entities from proximal spinal muscular atrophies.]. 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:8880702
;
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:NP435638.RATrI_Wh3E_QgSaSnnvvtIQ6hxXYVQGgPkJuHos8dBDaM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:18+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" .
}