Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_assertion description "[New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_assertion evidence source_evidence_literature NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_assertion SIO_000772 12840783 NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_assertion wasDerivedFrom befree-2016 NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_assertion wasGeneratedBy ECO_0000203 NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.
- befree-2016 importedOn "2016-02-19" NP400422.RAWgdrUF3v0Ygn8Nsmo0EyvW_BamMnzGGa6xXevFWR8lM130_provenance.