@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU
> .
@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:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_head
{
this:
np:hasAssertion
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_assertion
;
np:hasProvenance
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_assertion
a
np:Assertion
.
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_provenance
a
np:Provenance
.
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_assertion
{
miriam-gene:6687
a
ncit:C16612
.
lld:C1850303
a
ncit:C7057
.
dgn-gda:DGN976cde3f5b1efb2a83a4eb9ee024ee6f
sio:SIO_000628
miriam-gene:6687
,
lld:C1850303
;
a
sio:SIO_001121
.
}
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_provenance
{
dgn-np:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_assertion
dcterms:description
"[These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.]. 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:24466038
;
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:NP1149012.RAId9XmgDsvYJJ0pMI3v4EKDc2fAtFtlRcafOY_Em7teU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:27+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" .
}