@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs
> .
@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:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_head
{
this:
np:hasAssertion
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_assertion
;
np:hasProvenance
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_provenance
;
np:hasPublicationInfo
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_assertion
a
np:Assertion
.
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_provenance
a
np:Provenance
.
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_assertion
{
miriam-gene:6340
a
ncit:C16612
.
lld:C0268436
a
ncit:C7057
.
dgn-gda:DGNd4e366c5ef4e5f8a047f856088b1d8a6
sio:SIO_000628
miriam-gene:6340
,
lld:C0268436
;
a
sio:SIO_001121
.
}
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_provenance
{
dgn-np:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_assertion
dcterms:description
"[A consanguineous family from Somalia giving birth to a neonate suffering from PHA1 was studied including clinical and hormonal characteristics of the family, mutational analysis of the SCNN1A, SCNN1B, SCNN1G and CFTR genes and in vitro analysis of the functional consequences of a mutant ENaC channel.]. 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:18547339
;
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:NP420029.RAxSLT9hu3vN0WCzhjZPFrdjzjm6aCkhobxqy9kgpfMRs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:09+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" .
}