@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo
> .
@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:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_head
{
this:
np:hasAssertion
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_assertion
;
np:hasProvenance
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_assertion
a
np:Assertion
.
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_provenance
a
np:Provenance
.
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGN130db2d3e705b701f8fe8f120a8a5ac8
sio:SIO_000628
miriam-gene:2200
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_provenance
{
dgn-np:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_assertion
dcterms:description
"[While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene.]. 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:8882780
;
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:NP1360873.RAunuaFjqgvEtfD080DA5DJMF_hMHjcT7WMZ0HHSkMJRo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:03+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" .
}