Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion description "[We present two patients with Atelosteogenesis Type I (AO type I) caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion evidence source_evidence_literature NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion SIO_000772 23401428 NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion wasDerivedFrom befree-20140225 NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion wasGeneratedBy ECO_0000203 NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_provenance.