Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP748224.RAtFCmF52Gcw7BSUism81ICpKABkFvl0PcZ9rVjryBIlg#assertion> ?p ?o ?g. }
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- assertion description "[A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 14564162 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.