Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion> ?p ?o ?g. }
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- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion type Assertion NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_head.
- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion description "[PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_provenance.
- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion evidence source_evidence_literature NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_provenance.
- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion SIO_000772 14597037 NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_provenance.
- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion wasDerivedFrom lhgdn-20090331 NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_provenance.
- NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_assertion wasGeneratedBy ECO_0000203 NP137673.RAWl4mgwW2IAOAk0tPm4S01pjepTwnCaOO7RBfJOaAk9M130_provenance.