@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_head
{
this:
np:hasAssertion
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_assertion
;
np:hasProvenance
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_provenance
;
np:hasPublicationInfo
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_assertion
a
np:Assertion
.
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_provenance
a
np:Provenance
.
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_assertion
{
miriam-gene:10058
a
ncit:C16612
.
lld:C0003076
a
ncit:C7057
.
dgn-gda:DGN3af9e8f7d697edac9e0c9e6b23b303d5
sio:SIO_000628
miriam-gene:10058
,
lld:C0003076
;
a
sio:SIO_001122
.
}
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_provenance
{
dgn-np:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_assertion
dcterms:description
"[Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC.]. 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:22226084
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP951377.RAO3yCKPzQ6Wv0epCtsA9jXH02or2mT972pwlLbvjevw8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:56+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}