@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE
> .
@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:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_head
{
this:
np:hasAssertion
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_assertion
;
np:hasProvenance
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_provenance
;
np:hasPublicationInfo
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_assertion
a
np:Assertion
.
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_provenance
a
np:Provenance
.
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_assertion
{
miriam-gene:6046
a
ncit:C16612
.
lld:C0020619
a
ncit:C7057
.
dgn-gda:DGN7e78f9c331f6522f838b536081e68839
sio:SIO_000628
miriam-gene:6046
,
lld:C0020619
;
a
sio:SIO_001121
.
}
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_provenance
{
dgn-np:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_assertion
dcterms:description
"[The Cys82Arg mutation in a male with normal puberty and azoospermia results in profound deficiency of FSH in vitro, thereby confirming the molecular basis of hypogonadism in this patient and documenting the importance of the Cys residue at position 82 of the FSHbeta subunit.]. 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:12568849
;
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:NP778501.RAoKxPnR1wnHzy8fYL1R0Q_ImHMrloxd4ZvmW9wF3--uE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:52+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" .
}