Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_assertion description "[Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_assertion evidence source_evidence_curated NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_assertion SIO_000772 8227344 NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_assertion wasDerivedFrom uniprot-20150221 NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_assertion wasGeneratedBy ECO_0000218 NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP740.RA6BA60-6p69TI5TrcTpBvzUTgGT3qsEdLL6nhUTOMvXg130_provenance.