@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk
> .
@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:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_head
{
this:
np:hasAssertion
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_assertion
;
np:hasProvenance
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_provenance
;
np:hasPublicationInfo
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_assertion
a
np:Assertion
.
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_provenance
a
np:Provenance
.
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_assertion
{
miriam-gene:412
a
ncit:C16612
.
lld:C0079588
a
ncit:C7057
.
dgn-gda:DGNda2824adabd6690c9efb0fc735ff64dc
sio:SIO_000628
miriam-gene:412
,
lld:C0079588
;
a
sio:SIO_001121
.
}
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_provenance
{
dgn-np:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_assertion
dcterms:description
"[This data corroborated that most sporadic cases do not represent de novo mutations, and that FISH must be included in the analysis of mothers of sporadic cases when they present with normal STS activity, in order to correctly diagnose the XLI carrier state.]. 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:11477606
;
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:NP325455.RAA_-ZITkJMx5JDYnhJIwnCBgaiuz0PEmVygl30vQlkPk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:13+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" .
}