@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o> .
@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:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_head {
  this: np:hasAssertion dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion ;
    np:hasProvenance dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance ;
    np:hasPublicationInfo dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion a np:Assertion .
  dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance a np:Provenance .
  dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion {
  miriam-gene:3508 a ncit:C16612 .
  lld:C1858517 a ncit:C7057 .
  dgn-gda:DGNf6500d76a4175019a23f320003b95a76 sio:SIO_000628 miriam-gene:3508 , lld:C1858517 ;
    a sio:SIO_001123 .
}
dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_provenance {
  dgn-np:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_assertion dcterms:description "[Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels.]. 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:25439726 ;
    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:NP1241611.RAjnaFhH1tTOo840WsK2do6Pchg6AZ_Ef_movymelts5o130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:08+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" .
}