@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go
> .
@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:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_head
{
this:
np:hasAssertion
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_assertion
;
np:hasProvenance
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_provenance
;
np:hasPublicationInfo
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_assertion
a
np:Assertion
.
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_provenance
a
np:Provenance
.
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_assertion
{
miriam-gene:2243
a
ncit:C16612
.
lld:C0553681
a
ncit:C7057
.
dgn-gda:DGNfd279715c6a52be631629f15c1beae46
sio:SIO_000628
miriam-gene:2243
,
lld:C0553681
;
a
sio:SIO_001121
.
}
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_provenance
{
dgn-np:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_assertion
dcterms:description
"[Since this first report, 61 additional mutations, the majority in FGA, have been identified in patients with afibrinogenemia (in homozygosity or in compound heterozygosity) or in heterozygosity in hypofibrinogenemia, since many of these patients are in fact asymptomatic carriers of afibrinogenemia mutations.]. 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:17295221
;
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:NP593405.RA-rTJSFNE8Xe26H9znWr-l2z7zDzrDslRWmUtD0QF5Go130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:14+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" .
}