@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k
> .
@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:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_head
{
this:
np:hasAssertion
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_assertion
;
np:hasProvenance
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_provenance
;
np:hasPublicationInfo
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_assertion
a
np:Assertion
.
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_provenance
a
np:Provenance
.
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN2b3c1bfb0b170b2450817fc5836edf18
sio:SIO_000628
miriam-gene:6606
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_provenance
{
dgn-np:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_assertion
dcterms:description
"[The correlation between the SMA phenotype and the SMN2 copy number and the demonstration that sufficient SMN protein from SMN2 in transgenic mice can ameliorate the disease has made the SMN2 gene an obvious target that is being modulated in current therapeutic trials.]. 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:20829691
;
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:NP838280.RAZJ6zi0x42f4Xjcy1NHos3i4q7yLalQeYpw73YdSLb3k130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:05+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" .
}