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- source_evidence_literature type ECO_0000212 NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_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." NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_assertion evidence source_evidence_literature NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_assertion SIO_000772 16151898 NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_assertion wasDerivedFrom befree-20150227 NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_assertion wasGeneratedBy ECO_0000203 NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.