Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_assertion wasGeneratedBy ECO_0000203 NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_assertion wasDerivedFrom befree-20140225 NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_assertion SIO_000772 14967154 NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_assertion evidence source_evidence_literature NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP310300.RAX2pKByvvtCKkhFs4KoD9YvLXpKfys5iTVjEZGr-0YFs130_provenance.