Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion> ?p ?o ?g. }
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- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion type Assertion NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_head.
- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_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." NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_provenance.
- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion evidence source_evidence_literature NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_provenance.
- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion SIO_000772 14564162 NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_provenance.
- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion wasDerivedFrom befree-20150227 NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_provenance.
- NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_assertion wasGeneratedBy ECO_0000203 NP588032.RA7tzkvpW_5iti2WwoPh57zY1bBIg6nQwjinCyr61y0wE130_provenance.