@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s
> .
@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:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_head
{
this:
np:hasAssertion
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion
;
np:hasProvenance
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance
;
np:hasPublicationInfo
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion
a
np:Assertion
.
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance
a
np:Provenance
.
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion
{
miriam-gene:4094
a
ncit:C16612
.
lld:C0266544
a
ncit:C7057
.
dgn-gda:DGN43b481aa57f1f507854b52533665f714
sio:SIO_000628
miriam-gene:4094
,
lld:C0266544
;
a
sio:SIO_001121
.
}
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance
{
dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_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-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:28+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" .
}