Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_assertion description "[Study reports that 18 of 231 individuals with Noonan syndrome and 2 of 6 individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_assertion evidence source_evidence_literature NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_assertion SIO_000772 17603483 NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_assertion wasDerivedFrom lhgdn-20090331 NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_assertion wasGeneratedBy ECO_0000203 NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP226762.RASPXeEd2gkBuOxJ4L3aWp0GvK6b2BTWSqEB87kqlVWhM130_provenance.