@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU
> .
@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:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_head
{
this:
np:hasAssertion
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_assertion
;
np:hasProvenance
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_provenance
;
np:hasPublicationInfo
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_assertion
a
np:Assertion
.
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_provenance
a
np:Provenance
.
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_assertion
{
miriam-gene:668
a
ncit:C16612
.
lld:C0423113
a
ncit:C7057
.
dgn-gda:DGNea1ab4f78aad320770f5ee4fec2d0c00
sio:SIO_000628
miriam-gene:668
,
lld:C0423113
;
a
sio:SIO_001121
.
}
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_provenance
{
dgn-np:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_assertion
dcterms:description
"[Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome), growth and mental retardation, microcephaly ear and nose dysmorphism and joint and digit abnormalities.]. 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:9266197
;
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:NP461776.RAUEFuTBEQlCBlx56eR77faH15_0yJQmka4TaQ5Z9NitU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:35+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" .
}