Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion evidence source_evidence_literature NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion SIO_000772 23345197 NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion wasDerivedFrom befree-20140225 NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion wasGeneratedBy ECO_0000203 NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.