Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP259244.RAt7hvw_xESbBBL49Mx7hCPT9j9aSPnn10BuQuTTP4Ulc#assertion> ?p ?o ?g. }
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- assertion description "[A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22 (0)) leading to the activation of a cryptic splice site in intron 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 12073015 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.