@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_head
{
this:
np:hasAssertion
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion
;
np:hasProvenance
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance
;
np:hasPublicationInfo
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion
a
np:Assertion
.
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance
a
np:Provenance
.
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion
{
miriam-gene:1528
a
ncit:C16612
.
lld:C0266362
a
ncit:C7057
.
dgn-gda:DGNfe4205f19fd66a4eadf4db2a49864ec2
sio:SIO_000628
miriam-gene:1528
,
lld:C0266362
;
a
sio:SIO_001121
.
}
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance
{
dgn-np:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion
dcterms:description
"[It was found that the mutation of Lys83, Arg347 and Arg358 produced proteins that were deficient in their responsiveness to cytochrome b5, and the effect was most pronounced for the two arginine mutants (Arg347-->His and Arg358-->Gln) which have been found in male patients suffering from genital ambiguity.]. 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:9601054
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}