@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw
> .
@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:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_head
{
this:
np:hasAssertion
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_assertion
;
np:hasProvenance
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_provenance
;
np:hasPublicationInfo
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_assertion
a
np:Assertion
.
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_provenance
a
np:Provenance
.
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_assertion
{
miriam-gene:3476
a
ncit:C16612
.
lld:C1621958
a
ncit:C7057
.
dgn-gda:DGN656b27660674c5701789a6db62bc1dfc
sio:SIO_000628
miriam-gene:3476
,
lld:C1621958
;
a
sio:SIO_001121
.
}
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_provenance
{
dgn-np:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_assertion
dcterms:description
"[Homozygous mutations were found in alpha 3(IV) in two families and in alpha 4(IV) in two others, demonstrating that these chains are important in the structural integrity of the GBM and that there is an autosomal form of AS in addition to the previously-defined X-linked form.]. 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:7987396
;
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:NP823809.RAbL3PgVuPwBa-MdD9cpYvoV46omSK5h2DEG1ci0MBdcw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:24+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" .
}