Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion> ?p ?o ?g. }
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- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion type Assertion NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_head.
- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_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." NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_provenance.
- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion evidence source_evidence_literature NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_provenance.
- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion SIO_000772 21186003 NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_provenance.
- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion wasDerivedFrom befree-20150227 NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_provenance.
- NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_assertion wasGeneratedBy ECO_0000203 NP443244.RAkIUNRz3G12KJ-qMTgvPXkhO98IfmWGi1tfDOR3hHf0s130_provenance.