@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c
> .
@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:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_head
{
this:
np:hasAssertion
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_assertion
;
np:hasProvenance
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_assertion
a
np:Assertion
.
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_provenance
a
np:Provenance
.
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_assertion
{
miriam-gene:3040
a
ncit:C16612
.
lld:C0018609
a
ncit:C7057
.
dgn-gda:DGN1255b5b12c7814a915b46abb3c744162
sio:SIO_000628
miriam-gene:3040
,
lld:C0018609
;
a
sio:SIO_001121
.
}
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_provenance
{
dgn-np:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_assertion
dcterms:description
"[Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα(anti3.7) triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia.]. 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:24074530
;
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:NP1114396.RAi-IpjLNXuSD39gUXVj6S8m5sjQPYGuI9sc7Uk-gw04c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:11+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" .
}