Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion> ?p ?o ?g. }
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- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion type Assertion NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_head.
- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion description "[Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_provenance.
- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion evidence source_evidence_literature NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_provenance.
- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion SIO_000772 19690084 NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_provenance.
- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion wasDerivedFrom befree-2016 NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_provenance.
- NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_assertion wasGeneratedBy ECO_0000203 NP758231.RA1Bgcjxkj9fXfEXIq3N30yIpljXBxSposTgJRejvkkEk130_provenance.