@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs
> .
@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:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_head
{
this:
np:hasAssertion
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_assertion
a
np:Assertion
.
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_provenance
a
np:Provenance
.
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0011813
a
ncit:C7057
.
dgn-gda:DGN9a9c83a9de162429001612c74e58eebf
sio:SIO_000628
miriam-gene:1080
,
lld:C0011813
;
a
sio:SIO_001121
.
}
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_provenance
{
dgn-np:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_assertion
dcterms:description
"[Analogous with cystic fibrosis CFTR p.Phe508del, screening for RSPH9 p.Lys268del (which lacks sentinel dextrocardia) in those at risk would help in early diagnosis, tailored clinical management, genetic counselling and primary prevention.]. 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:22384920
;
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:NP215018.RAlSOTRC4fdJuuNzCFnzUn0IQNhTT4CFd9pvFHonkyZPs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:59+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" .
}