@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E
> .
@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/v3.0.0/void/
> .
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_head
{
this:
np:hasAssertion
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_assertion
;
np:hasProvenance
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_provenance
;
np:hasPublicationInfo
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_assertion
a
np:Assertion
.
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_provenance
a
np:Provenance
.
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_assertion
{
miriam-gene:157680
a
ncit:C16612
.
lld:C0023530
a
ncit:C7057
.
dgn-gda:DGN2e5a65cef6b54be0c921b830c672d39e
sio:SIO_000628
miriam-gene:157680
,
lld:C0023530
;
a
sio:SIO_001121
.
}
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_provenance
{
dgn-np:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_assertion
dcterms:description
"[From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years.]. 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:20656880
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP976689.RAPZyYp4w9Y5sTkXideNhu2nmSmkjkhAAxC1EsCjDGt5E130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:36+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}