Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_assertion description "[Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a rare, autosomal recessive disease of unregulated insulin secretion, defined by elevations in serum insulin despite severe hypoglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_assertion evidence source_evidence_curated NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_assertion SIO_000772 7847376 NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_assertion wasDerivedFrom uniprot-2016 NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_assertion wasGeneratedBy ECO_0000218 NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8543.RAKMZ0eZRaVKobehOSB58lwoo7yo4Vbnx5ftvYv_zC5Ns130_provenance.