Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_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." NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_assertion evidence source_evidence_literature NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_assertion SIO_000772 21932603 NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_assertion wasDerivedFrom befree-20150227 NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_assertion wasGeneratedBy ECO_0000203 NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP429034.RA_tiZvTKZfbGiq9MDA0bXNf0MG0zHl784apS4eY6VaLQ130_provenance.