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<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_publicationInfo> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.nanopub.org/nschema#PublicationInfo> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_head> .
<http://identifiers.org/ncbigene/6584> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> .
<http://linkedlifedata.com/resource/umls/id/C0878544> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN28e72d41004f7aadc0774aef8d113b3a> <http://semanticscience.org/resource/SIO_000628> <http://identifiers.org/ncbigene/6584> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN28e72d41004f7aadc0774aef8d113b3a> <http://semanticscience.org/resource/SIO_000628> <http://linkedlifedata.com/resource/umls/id/C0878544> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN28e72d41004f7aadc0774aef8d113b3a> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://semanticscience.org/resource/SIO_001121> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> .
<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> <http://purl.org/dc/terms/description> "[In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> <http://purl.org/ontology/wi/core#evidence> <http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> <http://semanticscience.org/resource/SIO_000772> <http://identifiers.org/pubmed/15487009> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> <http://www.w3.org/ns/prov#wasDerivedFrom> <http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_assertion> <http://www.w3.org/ns/prov#wasGeneratedBy> <http://purl.obolibrary.org/obo/eco.owl#ECO_0000203> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225> <http://purl.org/pav/2.0/importedOn> "2014-02-25"^^<http://www.w3.org/2001/XMLSchema#date> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.obolibrary.org/obo/eco.owl#ECO_0000212> <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
<http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature> <http://www.w3.org/2000/01/rdf-schema#comment> "Gene-disease associations inferred from text-mining the literature."@en <http://rdf.disgenet.org/nanopublications.trig#NP678224.RA-9iU5ZHCtthLO21eptAdvVuGm_fPRjwV56cAgGKXd1Y130_provenance> .
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