@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg
> .
@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:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_head
{
this:
np:hasAssertion
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion
;
np:hasProvenance
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance
;
np:hasPublicationInfo
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion
a
np:Assertion
.
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance
a
np:Provenance
.
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion
{
miriam-gene:1717
a
ncit:C16612
.
lld:C0175694
a
ncit:C7057
.
dgn-gda:DGN05dca932bd9841a2b83a1ef49c888635
sio:SIO_000628
miriam-gene:1717
,
lld:C0175694
;
a
sio:SIO_001121
.
}
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_provenance
{
dgn-np:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_assertion
dcterms:description
"[This is the first study in which DHCR7 gene mutational analysis has been performed on SLOS subjects with severe photosensitivity and indicates that no single mutation is responsible for the photosensitivity which characterizes this disorder.]. 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:16181459
;
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:NP514815.RAsUd5hKdBbIw2dphd1xAFnl4f1smasQhZO-ADM2Iltkg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:38+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" .
}