@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg
> .
@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:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_head
{
this:
np:hasAssertion
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_assertion
;
np:hasProvenance
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_provenance
;
np:hasPublicationInfo
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_assertion
a
np:Assertion
.
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_provenance
a
np:Provenance
.
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_assertion
{
miriam-gene:9927
a
ncit:C16612
.
lld:C0029124
a
ncit:C7057
.
dgn-gda:DGNe4472fd30d8505114ed2d56c841231f3
sio:SIO_000628
miriam-gene:9927
,
lld:C0029124
;
a
sio:SIO_001121
.
}
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_provenance
{
dgn-np:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_assertion
dcterms:description
"[This study also demonstrates the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms or additional symptoms such as optic atrophy.]. 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:19889647
;
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:NP331089.RAN13lhx_cKlgvgpYHLB1_3DXsCBwnDVm-KSfPudL0aPg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:15+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" .
}