Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion> ?p ?o ?g. }
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- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion type Assertion NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_head.
- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion description "[Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion evidence source_evidence_literature NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion SIO_000772 7599635 NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion wasDerivedFrom befree-2016 NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_assertion wasGeneratedBy ECO_0000203 NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.