Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- befree-2016 importedOn "2016-02-19" NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion wasGeneratedBy ECO_0000203 NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion wasDerivedFrom befree-2016 NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion SIO_000772 21872273 NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion evidence source_evidence_literature NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion description "[Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_provenance.