Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion description "[To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion evidence source_evidence_literature NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion SIO_000772 21823541 NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion wasDerivedFrom befree-2016 NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion wasGeneratedBy ECO_0000203 NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.
- befree-2016 importedOn "2016-02-19" NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_provenance.