Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion> ?p ?o ?g. }
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- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion type Assertion NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_head.
- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_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." NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.
- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion evidence source_evidence_literature NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.
- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion SIO_000772 21073448 NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.
- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion wasDerivedFrom befree-20140225 NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.
- NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_assertion wasGeneratedBy ECO_0000203 NP636228.RAeqpfKcc-29j5fxNOhKUODitIzVG1l7t418wpKJVfioc130_provenance.