@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4
> .
@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:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_head
{
this:
np:hasAssertion
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion
;
np:hasProvenance
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance
;
np:hasPublicationInfo
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion
a
np:Assertion
.
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance
a
np:Provenance
.
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion
{
miriam-gene:91942
a
ncit:C16612
.
lld:C0001614
a
ncit:C7057
.
dgn-gda:DGNffae60ec9912e5795a23f18ed2e47a54
sio:SIO_000628
miriam-gene:91942
,
lld:C0001614
;
a
sio:SIO_001121
.
}
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_provenance
{
dgn-np:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_assertion
dcterms:description
"[The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus, the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene.]. 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:18180188
;
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:NP710409.RAS4reHj8S7nnOt5NU-JNdMnkAS9ssFPU8dLLW7SprIE4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:12+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" .
}