@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE
> .
@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:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_head
{
this:
np:hasAssertion
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_assertion
;
np:hasProvenance
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_provenance
;
np:hasPublicationInfo
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_assertion
a
np:Assertion
.
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_provenance
a
np:Provenance
.
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_assertion
{
miriam-gene:2617
a
ncit:C16612
.
lld:C1832274
a
ncit:C7057
.
dgn-gda:DGN793859937061974c5a96eba0b5fefd50
sio:SIO_000628
miriam-gene:2617
,
lld:C1832274
;
a
sio:SIO_001121
.
}
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_provenance
{
dgn-np:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_assertion
dcterms:description
"[These results indicate that the CMT2D phenotype is caused not by reduction of the canonical GlyRS activity and insufficiencies in protein synthesis, but instead by novel pathogenic roles for the mutant GlyRS that specifically affect peripheral neurons.]. 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:16982418
;
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:NP495056.RA1k6h7VqMGlLggxJR_6VGtI_Jcj7F28d2ksfdTKbUKUE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:55+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" .
}