Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1314552.RAZAiRBdsVNq3R0oz0Qdf65T077WmKA0NXlci69BCFJJ4130_provenance.