@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA
> .
@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:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_head
{
this:
np:hasAssertion
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_assertion
;
np:hasProvenance
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_assertion
a
np:Assertion
.
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_provenance
a
np:Provenance
.
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_assertion
{
miriam-gene:412
a
ncit:C16612
.
lld:C0079588
a
ncit:C7057
.
dgn-gda:DGN08c18e60f3b83d5e0bce617950f565ca
sio:SIO_000628
miriam-gene:412
,
lld:C0079588
;
a
sio:SIO_001121
.
}
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_provenance
{
dgn-np:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_assertion
dcterms:description
"[It is important to determine the STS activity in the propositus mother of apparently non familial cases of XLI to identify the carrier state and provide and accurate genetic counseling, as most of these seem to correspond to inherited cases.]. 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:7546451
;
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:NP1312018.RAXR8v0fyB1ur5te4Tl1vwiFWNIZZfaiBA7221ntGF7QA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:40+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" .
}