Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion description "[As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion evidence source_evidence_curated NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion SIO_000772 11983712 NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion wasDerivedFrom uniprot-20130724 NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_assertion wasGeneratedBy ECO_0000218 NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP328.RAhWytgmR6Nov2nlUau4xfFXy91992aiBzgnwuTnO78TQ130_provenance.