@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8
> .
@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:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_head
{
this:
np:hasAssertion
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_assertion
;
np:hasProvenance
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_provenance
;
np:hasPublicationInfo
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_assertion
a
np:Assertion
.
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_provenance
a
np:Provenance
.
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_assertion
{
miriam-gene:4519
a
ncit:C16612
.
lld:C0018203
a
ncit:C7057
.
dgn-gda:DGN341999c100af606ac3fb0030a425743b
sio:SIO_000628
miriam-gene:4519
,
lld:C0018203
;
a
sio:SIO_001121
.
}
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_provenance
{
dgn-np:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_assertion
dcterms:description
"[Several other genes, including the alpha subunit of cytochrome B (CYBA), which is deleted or mutated in the autosomal form of chronic granulomatous disease, are located in the 16q24.3 region, but PCR amplification showed that this gene was present in the proband.]. 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:10479485
;
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:NP262451.RAmCiykEXsRf5_QjngA-XKicNYrqJ2LCGOul0VeDbcaI8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:45+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: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" .
}