Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_assertion description "[We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_assertion evidence source_evidence_literature NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_assertion SIO_000772 21932603 NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_assertion wasDerivedFrom befree-2016 NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_assertion wasGeneratedBy ECO_0000203 NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.
- befree-2016 importedOn "2016-02-19" NP925046.RA5AR6xQbRtsbjvIQZEJt1N8FNBb0Am4EUZ0DjJa2YoPw130_provenance.