@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M
> .
@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:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_head
{
this:
np:hasAssertion
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_assertion
;
np:hasProvenance
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_provenance
;
np:hasPublicationInfo
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_assertion
a
np:Assertion
.
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_provenance
a
np:Provenance
.
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_assertion
{
miriam-gene:5091
a
ncit:C16612
.
lld:C0034341
a
ncit:C7057
.
dgn-gda:DGNdbe38d77d1d2429da230f7930cf463ba
sio:SIO_000628
miriam-gene:5091
,
lld:C0034341
;
a
sio:SIO_001121
.
}
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_provenance
{
dgn-np:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_assertion
dcterms:description
"[This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life.]. 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:12112657
;
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:NP371697.RAP4Ms3xkuvqN9H7J8FbGEgsJ4nYTAaKBg63b7tH8O33M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:37+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" .
}