Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion> ?p ?o ?g. }
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- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion type Assertion NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_head.
- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.
- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion evidence source_evidence_literature NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.
- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion SIO_000772 16151898 NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.
- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion wasDerivedFrom befree-2016 NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.
- NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion wasGeneratedBy ECO_0000203 NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.