Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion> ?p ?o ?g. }
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- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion type Assertion NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_head.
- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion description "[The index patient's phenotype was severe, manifested by classic features of the illness (adrenal insufficiency, hypoparathyroidism, candidiasis, and keratoconjunctivitis with alopecia universalis), as well as by severe exocrine pancreatic insufficiency, diabetes mellitus, hepatic inflammation, growth hormone (GH) deficiency due to lymphocytic hypophysitis, and primary ovarian failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_provenance.
- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion evidence source_evidence_literature NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_provenance.
- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion SIO_000772 10084559 NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_provenance.
- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion wasDerivedFrom befree-20150227 NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_provenance.
- NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_assertion wasGeneratedBy ECO_0000203 NP424177.RAV6LK3YmfBOOLkFupLI-fwUcNKe7pwC4YE0eJtfXQiFQ130_provenance.