Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion> ?p ?o ?g. }
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- NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_assertion type Assertion NP104.RAQNAfBbOJ77hDGXtRO7hQzxIfpDqlGdL3WitMU9TTIDA130_head.
- 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.