Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion> ?p ?o ?g. }
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- NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_assertion type Assertion NP464556.RAiSBEb9l6Li92ayrVAG_NUjfGwzsjQxIUZx5LzQDFn8M130_head.
- 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.