@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk
> .
@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:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_head
{
this:
np:hasAssertion
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_assertion
;
np:hasProvenance
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_provenance
;
np:hasPublicationInfo
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_assertion
a
np:Assertion
.
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_provenance
a
np:Provenance
.
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_assertion
{
miriam-gene:283989
a
ncit:C16612
.
lld:C1261175
a
ncit:C7057
.
dgn-gda:DGNabe73413787a86ba12f2afa8667acfc1
sio:SIO_000628
miriam-gene:283989
,
lld:C1261175
;
a
sio:SIO_001121
.
}
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_provenance
{
dgn-np:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_assertion
dcterms:description
"[We conclude that the severity of pontocerebellar hypoplasia in the patient fits PCH2, while the large involvement of the cerebrum better corresponds to PCH4 demonstrating the phenotypic spectrum of PCH2 and 4.]. 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:23562994
;
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:NP340548.RAzoYy8rWvZSOoKEnDPWshHa2xeSOuq716Moe-f9bBwyk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+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" .
}