Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion> ?p ?o ?g. }
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- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion type Assertion NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_head.
- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion description "[CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one family to be associated with a loss-of-function mutation in SNAP29, encoding a member of the SNARE family of proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.
- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion evidence source_evidence_literature NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.
- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion SIO_000772 21073448 NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.
- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion wasDerivedFrom befree-2016 NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.
- NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_assertion wasGeneratedBy ECO_0000203 NP852173.RASeFKG3auoZ7pO7U6Q3F24UPWtKCuSK2bKpYfwrib7ek130_provenance.