@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U
> .
@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:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_head
{
this:
np:hasAssertion
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_assertion
;
np:hasProvenance
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_provenance
;
np:hasPublicationInfo
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_assertion
a
np:Assertion
.
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_provenance
a
np:Provenance
.
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_assertion
{
miriam-gene:6528
a
ncit:C16612
.
lld:C0010308
a
ncit:C7057
.
dgn-gda:DGN9e849bf02f5b76a24849a6b137db11da
sio:SIO_000628
miriam-gene:6528
,
lld:C0010308
;
a
sio:SIO_001121
.
}
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_provenance
{
dgn-np:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_assertion
dcterms:description
"[It is now possible to use gene diagnostics of this unique NIS mutation to identify patients with congenital hypothyroidism due to an iodide transport defect in this family and to determine the carrier state of potential parents for genetic counseling and arranging rapid and early diagnosis of their infants.]. 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:10487695
;
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:NP263125.RAcv7EPrX-uarE94g9QbssSYMIB9K5JNQUWL7yZdxlB0U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:45+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" .
}