@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8
> .
@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:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_head
{
this:
np:hasAssertion
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_assertion
;
np:hasProvenance
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_provenance
;
np:hasPublicationInfo
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_assertion
a
np:Assertion
.
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_provenance
a
np:Provenance
.
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_assertion
{
miriam-gene:2073
a
ncit:C16612
.
lld:C0043346
a
ncit:C7057
.
dgn-gda:DGN788290341564e9dec1eb51b3cdff11cc
sio:SIO_000628
miriam-gene:2073
,
lld:C0043346
;
a
sio:SIO_001121
.
}
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_provenance
{
dgn-np:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_assertion
dcterms:description
"[This patient is the ninth known case that falls into the extremely rare XP complementation group G. Four genetic markers within the XPG gene (including two polymorphisms) demonstrated the Mendelian distribution of this gene from the parents to the patient and to an unaffected sibling.]. 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:9447232
;
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:NP226983.RA2b5xfQykpHZn27kV0qy5Ld3mtbKOvGCp8KyH_nSBQw8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:06+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" .
}