@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c
> .
@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:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_head
{
this:
np:hasAssertion
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_assertion
;
np:hasProvenance
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_provenance
;
np:hasPublicationInfo
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_assertion
a
np:Assertion
.
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_provenance
a
np:Provenance
.
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0026846
a
ncit:C7057
.
dgn-gda:DGN224de9243038c798cf92c903b8d32eac
sio:SIO_000628
miriam-gene:6606
,
lld:C0026846
;
a
sio:SIO_001121
.
}
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_provenance
{
dgn-np:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_assertion
dcterms:description
"[With the localisation of the gene for the autosomal recessive forms of proximal spinal muscular atrophies (SMA) to the chromosomal region 5q13 and the later detection of homozygous deletions of the SMN gene located in this region, prenatal prediction of SMA has become feasible and is widely applied now.]. 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:8875190
;
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:NP895979.RAVH7JQdVn0pMDPLKqIuSpbNE_yKywYKRbTK1o3vKY7-c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:10+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" .
}