Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion description "[Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion evidence source_evidence_curated NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion SIO_000772 10200056 NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion wasDerivedFrom uniprot-2016 NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion wasGeneratedBy ECO_0000218 NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_provenance.