@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk
> .
@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:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_head
{
this:
np:hasAssertion
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_assertion
;
np:hasProvenance
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_assertion
a
np:Assertion
.
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_provenance
a
np:Provenance
.
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_assertion
{
miriam-gene:3925
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN409ade4de1f49ba2e78cb4ac7860fe20
sio:SIO_000628
miriam-gene:3925
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_provenance
{
dgn-np:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_assertion
dcterms:description
"[The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA.]. 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:9341891
;
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:NP1382465.RArjQzfbpLBOyYeEVKqF9CZxg-UCWid0mnvZfE19VaOYk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:12+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" .
}