@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM
> .
@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:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_head
{
this:
np:hasAssertion
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_assertion
a
np:Assertion
.
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_provenance
a
np:Provenance
.
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_assertion
{
miriam-gene:474285
a
ncit:C16612
.
lld:C0078917
a
ncit:C7057
.
dgn-gda:DGNa8f85f6908b7f161f42ea8015c2d57ea
sio:SIO_000628
miriam-gene:474285
,
lld:C0078917
;
a
sio:SIO_001121
.
}
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_provenance
{
dgn-np:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_assertion
dcterms:description
"[In order to shed light into the molecular pathogenesis of ocular albinism and possibly define critical functional domains within the OA1 protein, we characterized 19 independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells.]. 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:11115845
;
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:NP302914.RAW1GYu-yQY9L_yI7BEbmXelRRDkbQlRhrwoYCJZJiKlM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:03+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
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;
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" .
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pav:version
"v4.0.0" .
}