@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I
> .
@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:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_head
{
this:
np:hasAssertion
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_assertion
;
np:hasProvenance
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_provenance
;
np:hasPublicationInfo
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_assertion
a
np:Assertion
.
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_provenance
a
np:Provenance
.
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_assertion
{
miriam-gene:3030
a
ncit:C16612
.
lld:C0162739
a
ncit:C7057
.
dgn-gda:DGN0a6ff7d39cc41d5a13ea7c0a314acd82
sio:SIO_000628
miriam-gene:3030
,
lld:C0162739
;
a
sio:SIO_001122
.
}
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_provenance
{
dgn-np:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_assertion
dcterms:description
"[ The association between AFLP and the E474Q mutation in the fetus is significant. Screening newborns for this mutation in pregnancies complicated by AFLP could allow early diagnosis and treatment in newborns and genetic counseling and prenatal diagnosis i]. 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:12413376
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP76860.RAxbsdUopblCA6fPXvws-EI8zvqhBT9UPobq9VluQe56I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:42:23+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" .
}