Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_assertion description "[Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_assertion evidence source_evidence_curated NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_assertion SIO_000772 16685654 NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_assertion wasDerivedFrom ctd_human-20130708 NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_assertion wasGeneratedBy ECO_0000218 NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP29122.RAnJMMs2C4FApXyR_XXsLYhM8dT6XaLkbt3AE34WHvR6o130_provenance.