Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion> ?p ?o ?g. }
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- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion type Assertion NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_head.
- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion description "[Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_provenance.
- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion evidence source_evidence_literature NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_provenance.
- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion SIO_000772 21893389 NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_provenance.
- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion wasDerivedFrom befree-20140225 NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_provenance.
- NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_assertion wasGeneratedBy ECO_0000203 NP513496.RA9mLlZGfOPtCylusOxNmK4CpD8o8LKWS68L-EZK9FdPw130_provenance.