Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion> ?p ?o ?g. }
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- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion type Assertion NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_head.
- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion description "[Heterozygous inactivating mutations in the glucokinase gene (GCK) cause a mild form of diabetes (maturity-onset diabetes of the young [MODY]2), and activating mutations have been associated with a mild form of familial hyperinsulinemic hypoglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_provenance.
- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion evidence source_evidence_literature NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_provenance.
- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion SIO_000772 15277402 NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_provenance.
- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion wasDerivedFrom befree-2016 NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_provenance.
- NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_assertion wasGeneratedBy ECO_0000203 NP453474.RAFmUG_w9gtAnqcaCUJw1vBxCTM_EfWj0gnVBZ4paeQ6s130_provenance.