@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M
> .
@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:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_head
{
this:
np:hasAssertion
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion
;
np:hasProvenance
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance
;
np:hasPublicationInfo
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion
a
np:Assertion
.
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance
a
np:Provenance
.
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion
{
miriam-gene:6023
a
ncit:C16612
.
lld:C1834821
a
ncit:C7057
.
dgn-gda:DGNa5cbaaf9604c6770b64dfa2828eaeb53
sio:SIO_000628
miriam-gene:6023
,
lld:C1834821
;
a
sio:SIO_001121
.
}
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_provenance
{
dgn-np:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_assertion
dcterms:description
"[Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis.]. 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:16252239
;
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:NP310032.RAPs__kvy3wfeDkXAx2q_fy3YHCmFVhJ9lAJ1vUDUl7_M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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" .
}