@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4
> .
@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:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_head
{
this:
np:hasAssertion
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion
;
np:hasProvenance
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance
;
np:hasPublicationInfo
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion
a
np:Assertion
.
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance
a
np:Provenance
.
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion
{
miriam-gene:2245
a
ncit:C16612
.
lld:C0175701
a
ncit:C7057
.
dgn-gda:DGNe5e441e295c1f471f0961401887c334b
sio:SIO_000628
miriam-gene:2245
,
lld:C0175701
;
a
sio:SIO_001121
.
}
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance
{
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion
dcterms:description
"[In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19.56% detection rate).]. 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:14560308
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:05+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" .
}