@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28
> .
@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:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_head
{
this:
np:hasAssertion
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion
;
np:hasProvenance
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance
;
np:hasPublicationInfo
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion
a
np:Assertion
.
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance
a
np:Provenance
.
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion
{
miriam-gene:2736
a
ncit:C16612
.
lld:C2699510
a
ncit:C7057
.
dgn-gda:DGNc3d66948851af10d6a042ad054911200
sio:SIO_000628
miriam-gene:2736
,
lld:C2699510
;
a
sio:SIO_001121
.
}
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance
{
dgn-np:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion
dcterms:description
"[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. 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:17569090
;
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:NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:35+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" .
}