@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk
> .
@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:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_head
{
this:
np:hasAssertion
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion
;
np:hasProvenance
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance
;
np:hasPublicationInfo
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion
a
np:Assertion
.
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance
a
np:Provenance
.
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion
{
miriam-gene:3265
a
ncit:C16612
.
lld:C0027868
a
ncit:C7057
.
dgn-gda:DGN626152e8abf49e25374462099e032da7
sio:SIO_000628
miriam-gene:3265
,
lld:C0027868
;
a
sio:SIO_001121
.
}
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance
{
dgn-np:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion
dcterms:description
"[However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.]. 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:17412879
;
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:NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:57+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" .
}