@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0
> .
@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:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_head
{
this:
np:hasAssertion
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_assertion
;
np:hasProvenance
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_provenance
;
np:hasPublicationInfo
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_assertion
a
np:Assertion
.
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_provenance
a
np:Provenance
.
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_assertion
{
miriam-gene:4594
a
ncit:C16612
.
lld:C0276096
a
ncit:C7057
.
dgn-gda:DGN6325cb7076e102a472e13a0af631e6b3
sio:SIO_000628
miriam-gene:4594
,
lld:C0276096
;
a
sio:SIO_001121
.
}
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_provenance
{
dgn-np:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_assertion
dcterms:description
"[Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically divided into two subtypes mut- and mut0 MMA, and three different defects involved in the synthesis of the active form of the cofactor adenosylcobalamin, termed cbl MMA, and classified into three different complementation groups cblA, cblB, and cblH associated with defects in the MMAA and MMAB genes and with an unidentified protein, respectively.]. 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:15781192
;
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:NP486343.RArZG-KZY0KkAY4k1-P6FNnrZI-pF5iGB-iVnkKm7DfX0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:25+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" .
}