Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion> ?p ?o ?g. }
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- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion type Assertion NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_head.
- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion wasGeneratedBy ECO_0000203 NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_provenance.
- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion wasDerivedFrom befree-20140225 NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_provenance.
- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion SIO_000772 14967154 NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_provenance.
- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion evidence source_evidence_literature NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_provenance.
- NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314500.RAQogcQPfrxlhzhsPl-SpVsFUqEaa3CuEQS1glTUujrtQ130_provenance.