@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU
> .
@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:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_head
{
this:
np:hasAssertion
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_assertion
;
np:hasProvenance
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_provenance
;
np:hasPublicationInfo
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_assertion
a
np:Assertion
.
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_provenance
a
np:Provenance
.
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNe41f0d8077ea0f86cb3ccec45da60fd7
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_provenance
{
dgn-np:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_assertion
dcterms:description
"[Only SMN1 homoduplex peak was detected in 2 normal individuals and the standard sample, indicating the deletion of SMN2 On the contrary, only the SMN2 homoduplex peak was detected in 22 out of 25 patients with SMA, indicating deletion of SMN1.]. 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:15952118
;
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:NP499180.RAvjr60B_RsmVGSqxEnVXnu_SB-UZ4Zp5JR3sObBclDDU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:31+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" .
}