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- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion type Assertion NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_head.
- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion description "[In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_provenance.
- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion evidence source_evidence_literature NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_provenance.
- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion SIO_000772 15868462 NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_provenance.
- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion wasDerivedFrom befree-2016 NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_provenance.
- NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_assertion wasGeneratedBy ECO_0000203 NP492910.RAoN3Qhz4BJ9I-tUgfPvJFQ2BSFs5XByacdhj4DTI6W8A130_provenance.