Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion> ?p ?o ?g. }
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- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion type Assertion NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_head.
- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_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." NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_provenance.
- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion evidence source_evidence_literature NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_provenance.
- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion SIO_000772 19690084 NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_provenance.
- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion wasDerivedFrom befree-20140225 NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_provenance.
- NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_assertion wasGeneratedBy ECO_0000203 NP776942.RAJ7WCjRQKVswj3UKzuikdf3ZIvJegh1myoPK6jtzJamY130_provenance.