Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion> ?p ?o ?g. }
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- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion type Assertion NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_head.
- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion description "[Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with epileptic seizures, mental retardation, and generalized dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_provenance.
- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion evidence source_evidence_literature NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_provenance.
- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion SIO_000772 23463419 NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_provenance.
- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion wasDerivedFrom befree-2016 NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_provenance.
- NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_assertion wasGeneratedBy ECO_0000203 NP1058075.RAfeZwRdvR8xEV27QVDJc8IfXPk4JdrpaETmMJviiZzKg130_provenance.