Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion> ?p ?o ?g. }
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- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion type Assertion NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_head.
- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion description "[Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_provenance.
- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion evidence source_evidence_literature NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_provenance.
- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion SIO_000772 21932603 NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_provenance.
- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion wasDerivedFrom befree-20140225 NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_provenance.
- NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_assertion wasGeneratedBy ECO_0000203 NP686444.RAUOiyblC3OjoZNGmoif9tbnYlIDf_74HIvqRkEsb2EPk130_provenance.