@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4
> .
@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:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_head
{
this:
np:hasAssertion
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_assertion
;
np:hasProvenance
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_provenance
;
np:hasPublicationInfo
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_assertion
a
np:Assertion
.
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_provenance
a
np:Provenance
.
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_assertion
{
miriam-gene:10923
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN9861e49a254b2b5517323d78fa141684
sio:SIO_000628
miriam-gene:10923
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_provenance
{
dgn-np:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_assertion
dcterms:description
"[An infant with macular dysfunction, cleft lip and palate, and developmental delay was shown to have an inverted duplication of 11p11.3 leads to p14.1 on the basis of meiotic recombination subsequent to an intrachromosomal `shift` in his mother.]. 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:7211949
;
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:NP524481.RAlufNrFc5kit2zWg-en5MSEqoqWFpztdYtkxEXDRxUe4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:14+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" .
}