Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_assertion type Assertion NP919608.RAw17KUgZ3brSVh8TUjFSgGbJark32TQHvIogFjiq4JMI130_head.
- 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.