Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_assertion description "[Missense mutations of the GTPase Rab7 cause a dominantly inherited axonal degeneration known as Charcot-Marie-Tooth type 2B through an unknown mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_assertion evidence source_evidence_literature NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_assertion SIO_000772 20028791 NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_assertion wasDerivedFrom befree-2016 NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_assertion wasGeneratedBy ECO_0000203 NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.
- befree-2016 importedOn "2016-02-19" NP783019.RAgfPPAoXJhAk3X1aUsCpQ2vLwXkXG0hCZ6Qlv6Y0WqVs130_provenance.