@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg
> .
@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:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_head
{
this:
np:hasAssertion
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_assertion
;
np:hasProvenance
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_provenance
;
np:hasPublicationInfo
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_assertion
a
np:Assertion
.
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_provenance
a
np:Provenance
.
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_assertion
{
miriam-gene:1281
a
ncit:C16612
.
lld:C0268338
a
ncit:C7057
.
dgn-gda:DGN1428ae4f253a354fa71f2f11169abcdc
sio:SIO_000628
miriam-gene:1281
,
lld:C0268338
;
a
sio:SIO_001121
.
}
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_provenance
{
dgn-np:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_assertion
dcterms:description
"[Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.]. 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:1905723
;
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:NP235066.RAD_8LYxEKfQBW3DoCnueFxfIfKuf5HH-f_tH9KJxOMzg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:12+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" .
}