@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o
> .
@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:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_head
{
this:
np:hasAssertion
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_assertion
;
np:hasProvenance
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_provenance
;
np:hasPublicationInfo
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_assertion
a
np:Assertion
.
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_provenance
a
np:Provenance
.
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_assertion
{
miriam-gene:5592
a
ncit:C16612
.
lld:C1970848
a
ncit:C7057
.
dgn-gda:DGN733346fa2be345479b5704071ca4a1ef
sio:SIO_000628
miriam-gene:5592
,
lld:C1970848
;
a
sio:SIO_001121
.
}
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_provenance
{
dgn-np:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_assertion
dcterms:description
"[All findings indicate that the different clinical manifestations associated with PGK1 deficiency chiefly depend on the distinctive type of perturbations caused by mutations in the PGK1 gene, highlighting the need for determination of the molecular properties of PGK variants to assist in prognosis and genetic counseling.]. 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:22348148
;
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:NP165699.RAHBYHZsJmj_iVfIjtQFQgOtGUUc45gIQ8LxR2z2tTX_o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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" .
}