Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_assertion description "[Upon sequencing the ceramide kinase-like (CERKL) gene, which is mutated in the original RP26 family, we identified a C>A transversion in exon 2 (c.316C>A) that substitutes an arginine residue with a serine (p.R106S) in the conserved nuclear localization signal sequence (KLKRR) of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_assertion evidence source_evidence_curated NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_assertion SIO_000772 18978954 NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_assertion wasDerivedFrom uniprot-20130724 NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_assertion wasGeneratedBy ECO_0000218 NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1053.RAqBCTXOH_VxxcU-Fe6qDzm2OX6cSscgT8ur60DQ8fC4A130_provenance.