Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP12264.RA5rWXtsVYrk2m5xbs4v0nt-f_xmgByjoq14qUxX2P19I#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 8299233 provenance.
- assertion evidence source_evidence_curated provenance.
- 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." provenance.