Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion> ?p ?o ?g. }
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- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion type Assertion NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_head.
- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_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." NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_provenance.
- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion evidence source_evidence_literature NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_provenance.
- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion SIO_000772 21932603 NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_provenance.
- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion wasDerivedFrom befree-20140225 NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_provenance.
- NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_assertion wasGeneratedBy ECO_0000203 NP297246.RAM4eccfyTqne_ll48dwZ0R4zAwa_wZD7yvqWyYE5dB9Q130_provenance.