Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_assertion wasGeneratedBy ECO_0000218 NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_assertion wasDerivedFrom uniprot-20150221 NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_assertion SIO_000772 10079181 NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_assertion evidence source_evidence_curated NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.
- NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_assertion description "[Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197.RAXSFutqdkfcrHMSUrRPkwYI4rbt2Ajebs8P9nGtBmu4o130_provenance.