Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion> ?p ?o ?g. }
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- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion type Assertion NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_head.
- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion description "[Recent evidence suggests that mutations in HADH cause HH that is precipitated by protein in a similar manner to the hyperinsulinism/hyperammonemia (HI/HA) syndrome, which is caused by mutations in the GLUD1 gene, encoding the enzyme glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_provenance.
- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion evidence source_evidence_literature NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_provenance.
- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion SIO_000772 23253615 NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_provenance.
- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion wasDerivedFrom befree-20140225 NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_provenance.
- NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_assertion wasGeneratedBy ECO_0000203 NP804617.RA95CpT6uFcqzA3D3zYK6VrUN1qW0SpkCnrBcTGpK-9YY130_provenance.