@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo
> .
@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:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_head
{
this:
np:hasAssertion
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_assertion
;
np:hasProvenance
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_provenance
;
np:hasPublicationInfo
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_assertion
a
np:Assertion
.
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_provenance
a
np:Provenance
.
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNe48ef06fc7015f96b8928a108f101a57
sio:SIO_000628
miriam-gene:6606
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_provenance
{
dgn-np:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_assertion
dcterms:description
"[This analysis detected the absence of the homozygous SMN1 in all the investigated cases, and allowed to discriminate between SMN1 deletion and conversion to SMN2 on the basis of the size showed by the peaks specific for the different genes mapped within the SMA critical region.]. 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:16865356
;
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:NP561240.RATrAgtRrDsim5LUeNajZXrUyakQwz_XYV7alu3OlsOIo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:59+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" .
}