@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ
> .
@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:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_head
{
this:
np:hasAssertion
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_assertion
;
np:hasProvenance
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_assertion
a
np:Assertion
.
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_provenance
a
np:Provenance
.
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN776aee34f9e473c135d3febebc58df66
sio:SIO_000628
miriam-gene:4763
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_provenance
{
dgn-np:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_assertion
dcterms:description
"[In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part.]. 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:11309539
;
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:NP205322.RAjqeHTcEzXeTeVV-6q--EjkROlJ6d_ats4DOqzWYYdvQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:53+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" .
}