@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c
> .
@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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_assertion
a
np:Assertion
.
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_provenance
a
np:Provenance
.
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_assertion
{
miriam-gene:2539
a
ncit:C16612
.
lld:C0242225
a
ncit:C7057
.
dgn-gda:DGN0bdcb1127caf29d835fd6e868b573304
sio:SIO_000628
miriam-gene:2539
,
lld:C0242225
;
a
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.
}
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_provenance
{
dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_assertion
dcterms:description
"[In three out of the five HA pedigrees of our series that segregate also for G6PD or Deutan color blindness, the observed segregation of the combined phenotypes can be best explained by assuming the occurrence of a fresh mutation in the maternal grandfathers.]. 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:6421151
;
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 .
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dgn-np:NP253894.RAXIAVnbiGefQgHNAMquBFc6ezFT8V-GUj6NIrvNuLn7c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:22+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
<
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> , <
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
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"v2.1.0" .
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