@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ
> .
@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:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_head
{
this:
np:hasAssertion
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_assertion
;
np:hasProvenance
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_assertion
a
np:Assertion
.
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_provenance
a
np:Provenance
.
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_assertion
{
miriam-gene:83706
a
ncit:C16612
.
lld:C2748536
a
ncit:C7057
.
dgn-gda:DGN0170578464bd56d8279ed1553ed5e775
sio:SIO_000628
miriam-gene:83706
,
lld:C2748536
;
a
sio:SIO_001121
.
}
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_provenance
{
dgn-np:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_assertion
dcterms:description
"[Two other LAD1v patients were found to carry different stop codons in FERMT3 (p.Arg573X and p.Trp229X) and lacked the CALDAGGEF1 and NRXN2 mutations, providing convincing evidence that FERMT3 is the gene responsible for LAD1v.]. 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:19064721
;
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:NP705536.RAsmltg3RUkWSqR56X62qhzUcITtuUA38WwBX-OELr4VQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:09+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" .
}