Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion> ?p ?o ?g. }
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- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion type Assertion NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_head.
- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion description "[Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4?) or UCP2 (encoding mitochondrial uncoupling protein 2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_provenance.
- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion evidence source_evidence_literature NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_provenance.
- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion SIO_000772 21186003 NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_provenance.
- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion wasDerivedFrom befree-20140225 NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_provenance.
- NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_assertion wasGeneratedBy ECO_0000203 NP422979.RAn5o-viMwZ_7l9Ob42m7KFzCYpM3sfD3YNaTyZE2MPpo130_provenance.