Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_assertion description "[In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_assertion evidence source_evidence_literature NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_assertion SIO_000772 11302742 NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_assertion wasDerivedFrom befree-20150227 NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_assertion wasGeneratedBy ECO_0000203 NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP311761.RAyYfUZJQkPooDI4HoMwmnnm3eX3w5KkqfbJleHovi_xc130_provenance.