@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc
> .
@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:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_head
{
this:
np:hasAssertion
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion
;
np:hasProvenance
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance
;
np:hasPublicationInfo
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion
a
np:Assertion
.
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance
a
np:Provenance
.
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion
{
miriam-gene:414
a
ncit:C16612
.
lld:C0344724
a
ncit:C7057
.
dgn-gda:DGN3e1fcab9a285ab3a5ef6e7f6cc400745
sio:SIO_000628
miriam-gene:414
,
lld:C0344724
;
a
sio:SIO_001121
.
}
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_provenance
{
dgn-np:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_assertion
dcterms:description
"[In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD).]. 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:12599192
;
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:NP191629.RA9waCmalnzUA0-mraZ640NxyRiwt_1RF1G1Qya-KRNgc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:45+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" .
}