Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_assertion description "[Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_assertion evidence source_evidence_curated NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_assertion SIO_000772 22158539 NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_assertion wasDerivedFrom ctd_human-20130708 NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_assertion wasGeneratedBy ECO_0000218 NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP30218.RAQqW_bdH22jz5JqWz_f98_WqLJikMkZ-XLwV-JYQWG0A130_provenance.