@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE
> .
@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:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_head
{
this:
np:hasAssertion
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_assertion
;
np:hasProvenance
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_provenance
;
np:hasPublicationInfo
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_assertion
a
np:Assertion
.
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_provenance
a
np:Provenance
.
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_assertion
{
miriam-gene:3040
a
ncit:C16612
.
lld:C0271991
a
ncit:C7057
.
dgn-gda:DGNcbd0385adda2eb483fe9db581f30504d
sio:SIO_000628
miriam-gene:3040
,
lld:C0271991
;
a
sio:SIO_001121
.
}
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_provenance
{
dgn-np:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_assertion
dcterms:description
"[The delta(0) thalassemia phenotype in these two subjects is most likely due to a point mutation either at one of the other 24 potential termination codons not accessible to restriction analysis or to other single nucleotide changes which could either decrease delta globin gene transcription or lead to abnormal processing or transport of delta globin mRNA.]. 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:6323412
;
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:NP329279.RA3qx3Uadk0oFO1c5GGhfZ4W9snqMJwpYeGZPQt873hbE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:14+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" .
}