@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8
> .
@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:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_head
{
this:
np:hasAssertion
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_assertion
;
np:hasProvenance
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_provenance
;
np:hasPublicationInfo
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_assertion
a
np:Assertion
.
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_provenance
a
np:Provenance
.
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_assertion
{
miriam-gene:5265
a
ncit:C16612
.
lld:C0024115
a
ncit:C7057
.
dgn-gda:DGNcd820701b0f22cb51fa189e6690901f5
sio:SIO_000628
miriam-gene:5265
,
lld:C0024115
;
a
sio:SIO_001121
.
}
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_provenance
{
dgn-np:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_assertion
dcterms:description
"[Among 20 individuals with severe alpha 1-antitrypsin (alpha 1AT) deficiency we observed extremely variable clinical phenotypes ranging from rapidly progressive lung disease fatal at the age of 42 years to an asymptomatic individual with normal lung function at the age of 50 years.]. 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:2214609
;
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:NP944412.RA5vkwBQzM7m7Q0G8kSSjHYVX1AZFr_tGjelNnuEDv_g8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:53+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" .
}