@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA
> .
@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:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_head
{
this:
np:hasAssertion
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_assertion
;
np:hasProvenance
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_provenance
;
np:hasPublicationInfo
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_assertion
a
np:Assertion
.
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_provenance
a
np:Provenance
.
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_assertion
{
miriam-gene:7046
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGNecf83b852ec8c2c3e5fb8f6803f347bf
sio:SIO_000628
miriam-gene:7046
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_provenance
{
dgn-np:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_assertion
dcterms:description
"[In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study.]. 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:16835936
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP559428.RABG13tflBA6UPPvbs3sU7UqAfR9T3tuMmed4kaZ8-GMA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:58+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: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" .
}