@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE
> .
@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:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_head
{
this:
np:hasAssertion
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_assertion
;
np:hasProvenance
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_provenance
;
np:hasPublicationInfo
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_assertion
a
np:Assertion
.
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_provenance
a
np:Provenance
.
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_assertion
{
miriam-gene:3925
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGN57bdefe9d20971bd9675d08dd9e9255b
sio:SIO_000628
miriam-gene:3925
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_provenance
{
dgn-np:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_assertion
dcterms:description
"[This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis.]. 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:20711542
;
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:NP228451.RAwvCvW3nUJf2xHOH82gCUQbK4fFhGgX0uohC0NpMawQE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:08+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" .
}