@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_head
{
this:
np:hasAssertion
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_assertion
;
np:hasProvenance
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_provenance
;
np:hasPublicationInfo
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_assertion
a
np:Assertion
.
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_provenance
a
np:Provenance
.
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_assertion
{
miriam-gene:3265
a
ncit:C16612
.
lld:C0587248
a
ncit:C7057
.
dgn-gda:DGN5872ddb7005886d67ed80d035bbdd4b0
sio:SIO_000628
miriam-gene:3265
,
lld:C0587248
;
a
sio:SIO_001122
.
}
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_provenance
{
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_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_curated
;
sio:SIO_000772
miriam-pubmed:17412879
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP4951.RAc-lSfk86qmugW8VzFyiR959TMfjdBJI_ClxwcG8Xuwg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:52+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}