Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion> ?p ?o ?g. }
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- NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_assertion type Assertion NP915438.RAbTOx-UNcOHR-9tnguBO6OxwcqS4rFOdnvXLgXNG-_U0130_head.
- 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.