@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo
> .
@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:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_head
{
this:
np:hasAssertion
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_assertion
;
np:hasProvenance
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_provenance
;
np:hasPublicationInfo
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_assertion
a
np:Assertion
.
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_provenance
a
np:Provenance
.
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_assertion
{
miriam-gene:4094
a
ncit:C16612
.
lld:C0266544
a
ncit:C7057
.
dgn-gda:DGN3ae188a6d1ddcdbc1820d3f4abf1b4f3
sio:SIO_000628
miriam-gene:4094
,
lld:C0266544
;
a
sio:SIO_001122
.
}
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_provenance
{
dgn-np:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_assertion
dcterms:description
"[The MAF mutation p.Arg299Ser is the third mutation identified in association with the CCMC phenotype, and all three mutations are located in the basic region of the DNA binding domain in the MAF protein (OMIM 177075).]. 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:17982426
;
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:NP638805.RAzIVWfYesgoidT8J5FvLg8cPdNv0j_0eHQui6YTuaHYo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:35+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" .
}