Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion> ?p ?o ?g. }
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- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion type Assertion NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_head.
- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion description "[A child who presented with an IPEX-like syndrome and severe Treg cell deficiency was found to harbor a nonsense mutation in the gene encoding LPS-responsive beige-like anchor (LRBA), which was previously implicated as a cause of common variable immunodeficiency with autoimmunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_provenance.
- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion evidence source_evidence_literature NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_provenance.
- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion SIO_000772 25468195 NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_provenance.
- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion wasDerivedFrom befree-2016 NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_provenance.
- NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_assertion wasGeneratedBy ECO_0000203 NP1244222.RAWqvgsz3v40bGzh6dqCZ-BftPzqukiqnpTy8McBroJKo130_provenance.