Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion> ?p ?o ?g. }
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- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion type Assertion NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_head.
- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_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." NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_provenance.
- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion evidence source_evidence_literature NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_provenance.
- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion SIO_000772 14564162 NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_provenance.
- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion wasDerivedFrom befree-20140225 NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_provenance.
- NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_assertion wasGeneratedBy ECO_0000203 NP818785.RAwk6mfHLyB_xcAcWAcmOM5WUhOlAZsk5ooNS1atQJjQ0130_provenance.