@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q
> .
@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/v3.0.0/void/
> .
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_head
{
this:
np:hasAssertion
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_assertion
;
np:hasProvenance
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_assertion
a
np:Assertion
.
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_provenance
a
np:Provenance
.
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_assertion
{
miriam-gene:57190
a
ncit:C16612
.
lld:C0559260
a
ncit:C7057
.
dgn-gda:DGNcf536761164cb17cf3c242dfe7c4b2cd
sio:SIO_000628
miriam-gene:57190
,
lld:C0559260
;
a
sio:SIO_001122
.
}
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_provenance
{
dgn-np:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_assertion
dcterms:description
"[We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G-->A mutation.]. 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:16365872
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP929190.RARO9MZVG_qQLMzu5LJWMlVj8lhjgbmiz0V_WpeoIjj0Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:07+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}