Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion> ?p ?o ?g. }
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- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion type Assertion NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_head.
- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion description "[Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_provenance.
- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion evidence source_evidence_curated NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_provenance.
- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion SIO_000772 8299233 NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_provenance.
- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion wasDerivedFrom uniprot-2016 NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_provenance.
- NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_assertion wasGeneratedBy ECO_0000218 NP8838.RAkgQleifyJReIjjx3cVUDuLO44fvEHHLISiPbi1Hggek130_provenance.