Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_assertion description "[A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_assertion evidence source_evidence_literature NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_assertion SIO_000772 18785257 NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_assertion wasDerivedFrom befree-20140225 NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_assertion wasGeneratedBy ECO_0000203 NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.
- befree-20140225 importedOn "2014-02-25" NP518155.RAxw6dyX38OyqhFVdfHBg-MyvPI6l6w8SDAYe7N8PI3ik130_provenance.