Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_assertion description "[Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_assertion evidence source_evidence_literature NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_assertion SIO_000772 21858451 NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_assertion wasDerivedFrom befree-20140225 NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_assertion wasGeneratedBy ECO_0000203 NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP544590.RAuNJAY6IhJTGIu8D2veG4UBqxNOvVjZhOnGLb0bXrPYU130_provenance.