Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion> ?p ?o ?g. }
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- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion type Assertion NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_head.
- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion description "[Mutations in SUR have been identified in individuals affected with familial persistent hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder of glucose metabolism which is linked to chromosome 11p15.1 and characterized by unregulated secretion of insulin and profound hypoglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_provenance.
- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion evidence source_evidence_literature NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_provenance.
- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion SIO_000772 8923010 NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_provenance.
- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion wasDerivedFrom befree-20150227 NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_provenance.
- NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_assertion wasGeneratedBy ECO_0000203 NP512842.RAb9AVEu1v7QrXrHHiCeC6BTzZXYEficKeq5jecdQHXtM130_provenance.