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- source_evidence_literature type ECO_0000212 NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_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." NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_assertion evidence source_evidence_literature NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_assertion SIO_000772 18089695 NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_assertion wasDerivedFrom befree-2016 NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_assertion wasGeneratedBy ECO_0000203 NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.
- befree-2016 importedOn "2016-02-19" NP645904.RAUk7prUQQebSPC_-D5H4rOH3pHsirt-hljl5cDQpMXfc130_provenance.