@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc
> .
@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:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_head
{
this:
np:hasAssertion
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_assertion
;
np:hasProvenance
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_provenance
;
np:hasPublicationInfo
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_assertion
a
np:Assertion
.
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_provenance
a
np:Provenance
.
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_assertion
{
miriam-gene:1286
a
ncit:C16612
.
lld:C1567744
a
ncit:C7057
.
dgn-gda:DGN06cf91d12cc6b4242faf0c668e9b239f
sio:SIO_000628
miriam-gene:1286
,
lld:C1567744
;
a
sio:SIO_001121
.
}
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_provenance
{
dgn-np:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_assertion
dcterms:description
"[In an African American population in which autosomal recessive Alport syndrome is rarely seen, complete sequencing of the COL4A3 and COL4A4 genes may be necessary to identify the underlying mutation and confirm the diagnosis.]. 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:18436078
;
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:NP608837.RAeg3Y-huRYSOYnT4qowhZnAk-avml1WqQ--z5SPEuYjc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:05+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" .
}