Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion> ?p ?o ?g. }
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- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion type Assertion NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_head.
- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_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." NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.
- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion evidence source_evidence_literature NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.
- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion SIO_000772 21073448 NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.
- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion wasDerivedFrom befree-20150227 NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.
- NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_assertion wasGeneratedBy ECO_0000203 NP820399.RAVG1tyqWslNn-1RvHipep5qKfF79y52hrqpI-0Hh22L8130_provenance.