@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A
> .
@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:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_head
{
this:
np:hasAssertion
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_assertion
;
np:hasProvenance
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_provenance
;
np:hasPublicationInfo
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_assertion
a
np:Assertion
.
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_provenance
a
np:Provenance
.
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_assertion
{
miriam-gene:4338
a
ncit:C16612
.
lld:C0268119
a
ncit:C7057
.
dgn-gda:DGN13d5729ecdad1f2e8c39c05467e51cde
sio:SIO_000628
miriam-gene:4338
,
lld:C0268119
;
a
sio:SIO_001121
.
}
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_provenance
{
dgn-np:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_assertion
dcterms:description
"[Sequencing of the MOCS2A gene revealed heterozygosity for c.[265T>C] + [266A>G], diagnosed as molybdenum cofactor deficiency type B. Neonatal seizures, progressive cerebral atrophy, and low serum levels of uric acid may provide diagnostic clues in patients with cerebral palsy of undetermined cause.]. 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:22759696
;
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:NP834602.RADNCP9VqrkHHU9p14_OzO7Yk6CYztquW1vj4eu5px38A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:30+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" .
}