@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU
> .
@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:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_head
{
this:
np:hasAssertion
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_assertion
;
np:hasProvenance
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_provenance
;
np:hasPublicationInfo
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_assertion
a
np:Assertion
.
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_provenance
a
np:Provenance
.
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGNc559ad7e20979edd101bc343b714f800
sio:SIO_000628
miriam-gene:5781
,
lld:C0013336
;
a
sio:SIO_001122
.
}
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_provenance
{
dgn-np:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_assertion
dcterms:description
"[We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1.]. 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:19725129
;
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:NP760812.RAw6Erv_fYZPCJiMtdh2Ca_kOjfSyI-T7acqRJgoipBIU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:30+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" .
}