@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_assertion
;
np:hasProvenance
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_provenance
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np:hasPublicationInfo
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_assertion
a
np:Assertion
.
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_provenance
a
np:Provenance
.
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_assertion
{
miriam-gene:5894
a
ncit:C16612
.
lld:C0007194
a
ncit:C7057
.
dgn-gda:DGN336409fc25f494bdbf029ef8bfc89382
sio:SIO_000628
miriam-gene:5894
,
lld:C0007194
;
a
sio:SIO_001121
.
}
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_provenance
{
dgn-np:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_assertion
dcterms:description
"[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. 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:17603482
;
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:NP899559.RAOCuY8gLUtx35eDZqxCEO-VLVRpgJfzYHEn3a2otggQQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:13+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
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"v2.1.0" .
}