@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w
> .
@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:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_head
{
this:
np:hasAssertion
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion
a
np:Assertion
.
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance
a
np:Provenance
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dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion
{
miriam-gene:583
a
ncit:C16612
.
lld:C0152427
a
ncit:C7057
.
dgn-gda:DGN80ff428560a8fdf5df1b2a846e7ac092
sio:SIO_000628
miriam-gene:583
,
lld:C0152427
;
a
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.
}
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance
{
dgn-np:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion
dcterms:description
"[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. 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:21044901
;
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:NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:38+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
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pav:authoredBy
<
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> , <
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http://orcid.org/0000-0002-9383-528X
> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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dgn-void:disgenetrdf
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