Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion> ?p ?o ?g. }
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- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion type Assertion NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_head.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion description "[A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion evidence source_evidence_literature NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion SIO_000772 14564162 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion wasDerivedFrom befree-20140225 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion wasGeneratedBy ECO_0000203 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.