@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s
> .
@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:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_head
{
this:
np:hasAssertion
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_assertion
;
np:hasProvenance
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_provenance
;
np:hasPublicationInfo
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_assertion
a
np:Assertion
.
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_provenance
a
np:Provenance
.
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0270971
a
ncit:C7057
.
dgn-gda:DGN9e41d9827bd1843747cd93ee4d909cfc
sio:SIO_000628
miriam-gene:6606
,
lld:C0270971
;
a
sio:SIO_001121
.
}
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_provenance
{
dgn-np:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_assertion
dcterms:description
"[To study the clinical profile of paralytic floppy infants undertaking available investigations and detect the frequency of exon7 of survival motor neuron (SMNT) gene deletion among the spinal muscular atrophy (SMA) cases.]. 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:11721063
;
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:NP345477.RAYAL2yIyW3ZJZXhpOIOkhHUXUnWZecdgiU97L95N3l7s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}