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- source_evidence_literature type ECO_0000212 NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_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." NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_assertion evidence source_evidence_literature NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_assertion SIO_000772 21073448 NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_assertion wasDerivedFrom befree-20150227 NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_assertion wasGeneratedBy ECO_0000203 NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP820389.RAUlDDKSxOvcAP1m6z1wyKWQB_wHd9w-ckCqLvU-TN9Dg130_provenance.