@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA
> .
@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:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_head
{
this:
np:hasAssertion
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_assertion
;
np:hasProvenance
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_provenance
;
np:hasPublicationInfo
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_assertion
a
np:Assertion
.
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_provenance
a
np:Provenance
.
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_assertion
{
miriam-gene:1286
a
ncit:C16612
.
lld:C1859726
a
ncit:C7057
.
dgn-gda:DGN440aba8f4326a92b122d4327842518c1
sio:SIO_000628
miriam-gene:1286
,
lld:C1859726
;
a
sio:SIO_001121
.
}
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_provenance
{
dgn-np:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_assertion
dcterms:description
"[A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS.]. 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:16338941
;
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:NP483015.RAkJonNxge6Ft9nCPpCKmOO8hM6oezrr1jzyHHeNxdzMA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:49+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" .
}