Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion> ?p ?o ?g. }
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- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion type Assertion NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_head.
- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_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." NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_provenance.
- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion evidence source_evidence_literature NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_provenance.
- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion SIO_000772 21186003 NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_provenance.
- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion wasDerivedFrom befree-20150227 NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_provenance.
- NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_assertion wasGeneratedBy ECO_0000203 NP461584.RA7PlKNkdsWS6cHR-dYlxy1UBQewR27B6LviR6ZRT_1xs130_provenance.