Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_assertion description "[We suggest that hypogonadism, GH deficiency, and hypothyroidism could be possible endocrinological defects in patients with CHD7 mutations and that olfactory bulb hypoplasia as well as semicircular canal aplasia should be considered as a major sign for CHARGE syndrome and recommend a computed tomography scan of the temporal bone and magnetic resonance imaging study of the olfactory bulb region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_assertion evidence source_evidence_literature NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_assertion SIO_000772 18089695 NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_assertion wasDerivedFrom befree-20140225 NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_assertion wasGeneratedBy ECO_0000203 NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP551398.RAOVPqi2oMxAlZKu5dqsPRZ2NJXOfFgUu9KWayeDpFnZ4130_provenance.