@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk
> .
@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:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_head
{
this:
np:hasAssertion
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_assertion
;
np:hasProvenance
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_provenance
;
np:hasPublicationInfo
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_assertion
a
np:Assertion
.
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_provenance
a
np:Provenance
.
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_assertion
{
miriam-gene:10804
a
ncit:C16612
.
lld:C1720965
a
ncit:C7057
.
dgn-gda:DGNa36084a3a4f3768d3343555f1648f1e7
sio:SIO_000628
miriam-gene:10804
,
lld:C1720965
;
a
sio:SIO_001121
.
}
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_provenance
{
dgn-np:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_assertion
dcterms:description
"[our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.]. 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:12788524
;
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:NP833507.RAb2Qc46O0_kB9sMffjTjBzaEMtn91qJ6rKwu3oN83FWk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:30+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" .
}