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http://rdf.disgenet.org/nanopublications.trig#NP325774.RARGavzp0zYh_4QncogMAq6C0KxQ2trjFYXaVNOBGrgSU
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
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a
np:Nanopublication
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np:Assertion
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dgn-np:NP325774.RARGavzp0zYh_4QncogMAq6C0KxQ2trjFYXaVNOBGrgSU130_provenance
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{
miriam-gene:1738
a
ncit:C16612
.
lld:C1850380
a
ncit:C7057
.
dgn-gda:DGN13f8efd5f8defecb58b83d444a723dcb
sio:SIO_000628
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,
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.
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dgn-np:NP325774.RARGavzp0zYh_4QncogMAq6C0KxQ2trjFYXaVNOBGrgSU130_provenance
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dgn-np:NP325774.RARGavzp0zYh_4QncogMAq6C0KxQ2trjFYXaVNOBGrgSU130_assertion
dcterms:description
"[We analyzed human DLD mutations linked to strikingly different clinical phenotypes, including E340K, D444V, R447G, and R460G in the dimer interface domain that are responsible for severe multisystem disorders of infancy and G194C in the NAD(+)-binding domain that is typically associated with milder presentations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:21930696
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
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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 .
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dgn-np:NP325774.RARGavzp0zYh_4QncogMAq6C0KxQ2trjFYXaVNOBGrgSU130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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> , <
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> ;
pav:createdBy
<
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pav:version
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