@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s
> .
@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:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_head
{
this:
np:hasAssertion
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_assertion
;
np:hasProvenance
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_provenance
;
np:hasPublicationInfo
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_assertion
a
np:Assertion
.
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_provenance
a
np:Provenance
.
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_assertion
{
miriam-gene:3342
a
ncit:C16612
.
lld:C0025958
a
ncit:C7057
.
dgn-gda:DGN773dda7770aa86cd88edc0f04362c46f
sio:SIO_000628
miriam-gene:3342
,
lld:C0025958
;
a
sio:SIO_001121
.
}
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_provenance
{
dgn-np:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_assertion
dcterms:description
"[Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13.]. 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:23201896
;
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:NP688605.RA1qlHvaP1SnyicVZ_dpGTgpUCaj8gPMsyeq3O8FVFh9s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:58+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" .
}